American Journal of Medical Genetics Part A

Papers
(The TQCC of American Journal of Medical Genetics Part A is 4. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-02-01 to 2024-02-01.)
ArticleCitations
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus59
Limitations of exome sequencing in detecting rare and undiagnosed diseases48
Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis46
Nosology of genetic skeletal disorders: 2023 revision42
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature36
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome34
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐1933
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome33
Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes32
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations30
KBG syndrome: Common and uncommon clinical features based on 31 new patients26
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis26
Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature26
Natural history of achondroplasia: A retrospective review of longitudinal clinical data24
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants23
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations23
Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome23
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants23
Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II22
Clan genomics: From OMIM phenotypic traits to genes and biology22
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)21
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders20
Human RAD50 deficiency: Confirmation of a distinctive phenotype20
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy20
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review19
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect19
Headaches in hypermobility syndromes: A pain in the neck?19
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing19
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome19
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome19
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics19
Use of complementary therapies for chronic pain management in patients with reported Ehlers‐Danlos syndrome or hypermobility spectrum disorders18
Medical genetics education in the midst of the COVID‐19 pandemic: Shared resources18
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review18
Nine newly identified individuals refine the phenotype associated with MYT1L mutations18
Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information18
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database17
Variable clinical severity in TANGO2 deficiency: Case series and literature review17
The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning16
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome16
Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome16
Assessing physical symptoms, daily functioning, and well‐being in children with achondroplasia16
Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study16
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene16
Novel genetic testing model: A collaboration between genetic counselors and nephrology16
Rubinstein–Taybi syndrome in diverse populations15
Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort15
Clinical characteristics of individuals with Down syndrome deceased with CoVID‐19 in Italy—A case series15
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy15
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy15
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients15
Surveillance guidelines for children with trisomy 1815
Immediate and 6‐week after effects of a rehabilitation program for Ehlers–Danlos syndrome hypermobile type patients: A retrospective study14
Sertraline as a treatment option for temper outbursts in Prader–Willi syndrome14
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations14
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome14
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures14
Physical therapy treatment of hypermobile Ehlers–Danlos syndrome: A systematic review14
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome14
Clinical spectrum in multiple families with primary COQ10 deficiency14
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study14
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature14
The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?14
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum14
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations14
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes13
GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment13
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency13
Interdisciplinary care of children with trisomy 13 and 1813
Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours13
Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature13
The burden of chronic disease, multimorbidity, and polypharmacy in adults with Down syndrome13
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation13
Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations13
Genotype–phenotype correlation at codon 1740 of SETD213
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features13
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt–Oram syndrome12
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy12
Whole genome sequencing of 45 Japanese patients with intellectual disability12
MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia12
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B12
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder12
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy12
Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth12
Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 112
Specialty clinics for adults with Down syndrome: A clinic survey12
A validated model for prediction of survival to 6 months in patients with trisomy 13 and 1812
SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition12
Phenotypic features in MECP2 duplication syndrome: Effects of age12
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency12
Improving survival in patients with trisomy 1812
Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands11
Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports11
Age at and indication for diagnosis of Turner syndrome in the pediatric population11
Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review11
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome11
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses11
Quality of life in adults with achondroplasia in the United States11
Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects11
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines11
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C‐terminal amino acid sequence11
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL311
Clinical aspects of a large group of adults with Angelman syndrome11
Obstructive sleep apnea in adults with Down syndrome11
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients11
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant11
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report11
Brain morphological analysis in PTEN hamartoma tumor syndrome11
Insufficient development of vessels and alveoli in lungs of infants with trisomy 18—Features of pulmonary histopathological findings from lung biopsy10
Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations10
Patient with an autosomal‐recessive MBTPS1‐linked phenotype and clinical features of Silver–Russell syndrome10
Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria10
Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome10
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses10
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia 10
Functioning and well‐being in older children and adolescents with achondroplasia: A qualitative study10
Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use10
Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures10
Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy10
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy10
Shortfall of exome analysis for diagnosis of Shwachman‐Diamond syndrome: Mismapping due to the pseudogene SBDSP110
ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder10
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations10
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS110
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development10
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature10
An Indian child with Coats plus syndrome due to mutations in STN110
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome10
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies10
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?10
Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature10
Impact of Costello syndrome on growth patterns10
New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry10
The spectrum of brain malformations and disruptions in twins10
Mowat–Wilson syndrome in a Chinese population: A case series10
Autosomal‐dominant WFS1‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms10
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series10
Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review9
Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India9
Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review9
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature9
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges9
Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome9
Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient9
Parenting stress in families of children with Prader–Willi syndrome9
Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation9
Magnitude of Mendelian versus complex inheritance of rare disorders9
Functional analysis of novel genetic variants of NKX2‐5 associated with nonsyndromic congenital heart disease9
Delayed diagnosis and racial bias in children with genetic conditions9
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes9
Perspectives on the future of dysmorphology9
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study9
Confirming TBC1D32‐related ciliopathy in humans9
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?9
Heterozygous variants in SPTBN1 cause intellectual disability and autism9
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study9
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37‐PACS1‐PACS2 axis9
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes9
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery9
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study9
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy9
Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele9
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology9
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder9
Cantu syndrome: A longitudinal review of vascular findings in three individuals9
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype9
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome9
Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades8
Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy8
A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis8
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance8
Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes8
Expansion of the clinical phenotype of GALE deficiency8
Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology8
Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature8
Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype8
Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome8
A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature8
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes8
EPHB4 mutation causes adult and adolescent‐onset primary lymphedema8
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans8
Expanding the spectrum of CEP55‐associated disease to viable phenotypes8
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile8
22q11.2 duplications: Expanding the clinical presentation8
Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome8
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile8
Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain8
Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles8
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families8
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes8
Ophthalmological abnormalities in Down syndrome among Brazilian patients8
KBG syndrome in two patients from Egypt8
Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome8
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant8
50 years of Robinow syndrome8
Chromoanasynthesis as a cause of Jacobsen syndrome8
Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet8
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome8
Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome8
Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants8
Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C18
Views of adults with 22q11 deletion syndrome on reproductive choices8
Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients7
Further delineation of HIDEA syndrome7
Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder7
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease7
Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome7
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case7
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review7
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF2137
Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study7
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population7
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia7
Clinical variability of TUBB‐associated disorders: Diagnosis through reanalysis7
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study7
Detection of mosaic variants using genome sequencing in a large pediatric cohort7
Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children7
Physical fitness and activity level in Norwegian adults with achondroplasia7
Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family7
Clinical spectrum of individuals with de novo EBF3 variants or deletions7
Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review7
Phenotypic diversity and genetic complexity of PAX3‐related Waardenburg syndrome7
Three‐dimensional facial morphology in Cantú syndrome7
Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax7
Health care transition for individuals with Down syndrome: A needs assessment7
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans7
Fifty years of recognizable patterns of human malformation: Insights and opportunities7
Extremity anomalies associated with Robinow syndrome7
Parental mosaicism in de novo neurodevelopmental diseases7
Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population7
Sleep and behavior in children and adolescents with tuberous sclerosis complex7
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey7
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported7
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys)7
Can artificial intelligence save medical genetics?7
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi7
An additional case of Néstor‐Guillermo progeria syndrome diagnosed in early childhood7
An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis7
Novel hemizygous loss‐of‐function variant in NONO identified in a South African boy7
Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results7
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy7
Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders7
Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum7
Expansion of NEUROD2 phenotypes to include developmental delay without seizures7
Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders7
Syndromic neurodevelopmental disorder associated with de novo variants in DDX237
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype7
Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 97
Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies7
Homozygous deletion of exons 2–7 within TGFB3 gene in a child with severe Loeys‐Dietz syndrome and Marfan‐like features7
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