Clinical Dysmorphology

Papers
(The TQCC of Clinical Dysmorphology is 1. 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 2021-05-01 to 2025-05-01.)
ArticleCitations
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family7
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome6
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature5
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families4
A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes4
Restrictive dermopathy due to ZMPSTE24 deficiency4
Rare case of dual diagnosis in consanguineous family: a case report4
A new case of SUPT16H-associated syndromic neurodevelopmental delay3
Two novel variants and follow-up findings in four children with Bloom syndrome from two families3
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups3
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients3
Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report3
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations3
Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family3
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case3
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant – first European family and literature review3
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report2
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei2
TUBB3 R262H in a neonate with ptosis and vocal cord palsy2
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature2
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome2
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures2
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus2
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene2
Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature2
A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia1
DEGS1-related leukodystrophy: a clinical report and review of literature1
A case report of Hennekam syndrome with a mutation in the CCBE1 gene1
A challenging diagnosis of the PIK3CA-related overgrowth spectrum1
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report1
A familial rearrangement resulting in pure duplication of distal 19p13.31
A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens syndrome type 21
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD91
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?1
A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay1
Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey1
Bloom syndrome in children: unusual case of early onset lung damage1
Angelman syndrome with a 15q11q13 deletion in a mother and daughter1
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report1
The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning1
First case of Myhre syndrome with schizophrenia1
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family1
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features1
X-Autosome translocations: X-inactivation and effect on phenotype1
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia1
Novel antenatal presentation of cystic hygroma in a case of Koolen–de Vries syndrome1
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson1
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant1
A proximal 300kb deletion further defining critical regions in 4q25 syndrome1
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants1
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome1
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients1
A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype1
Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common1
Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris1
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