Results 51 to 60 of about 1,915 (178)
Anonychia associated with ectrodactyly syndrome: a case report
The Turkish Journal of Pediatrics, 1989 Anonychia with ectrodactyly is a rare inherited autosomal dominant syndrome. A case of a two-month-old female infant presenting with anonychia in association with ectrodactyly and microcephaly is presented.
T Patiroğlu, E Hasanoğlu
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Indian Journal of Dental Research, 2014 Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms.
Ashish Agrawal +4 more
doaj +1 more source
Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]
, 2013 Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj +2 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.The expanded SHFM4 mutation spectrum encompasses 28 TP63 variants, including 12 dual‐phenotype (SHFM4/EEC3) mutations and 16 isolated SHFM4‐only mutations. The novel p.E678Q missense variant in the sumoylation motif is the most reliable SHFM4‐only mutation identified at the C‐terminus to date.
Wei Yang, Jian Zhou, Nuo Si, Xue Zhang
wiley +1 more source
F1000Research, 2015 Skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton. The Gollop-Wolfgang complex (GWC) is a limb deficiency disorder and an unusual limb malformation with highly variable manifestations.
Ihtesham A. Qureshi +6 more
doaj +1 more source
Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 3, Page 282-289, September 2025.ABSTRACT Objectives To evaluate: (i) the performance of the National Health Service (NHS) phenotypic eligibility criteria for prenatal exome sequencing (pES); (ii) the diagnostic yield of individual NHS criteria; (iii) the diagnostic yield when one or multiple NHS criteria were met; and (iv) the performance of the NHS criteria compared with that of ...
K. Reilly +23 more
wiley +1 more source
Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene. [PDF]
PLoS ONE, 2012 EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene.
Jianhua Wei +11 more
doaj +1 more source
Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2022 Gollop-Wolfgang complex (GWC) is a rare musculoskeletal anomaly consisting of unilateral femur bifurcation, ipsilateral tibial agenesis, and ectrodactyly.
Jagjit Singh Dalal +4 more
doaj +1 more source
Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders
Acta Paediatrica, Volume 114, Issue 7, Page 1720-1730, July 2025.ABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Shumin Zhan +8 more
wiley +1 more source
Ectrodactyly in german shepherd dogs
Ciencia Veterinaria, 2017 The authors report a case of ectrodactyly in a 5-month-old German Shepherd. It is a description of the pathology aspects and the radiological characteristics of it.
Santiago Andrés Audisio +4 more
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