Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree
Author:
Affiliation:
1. State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases Department of Pediatric Dentistry Department of Cleft Lip and Palate, West China Hospital of Stomatology Sichuan University Chengdu China
Funder
Department of Science and Technology of Sichuan Province
Publisher
Wiley
Subject
General Dentistry,Otorhinolaryngology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/odi.14362
Reference13 articles.
1. Mutations in EDAR account for one‐quarter of non‐ED1‐related hypohidrotic ectodermal dysplasia;Chassaing N.;Human Mutation,2006
2. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases;Cluzeau C.;Human Mutation,2011
3. Non‐syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A);Li S.;PLoS ONE,2008
4. Enhanced ectodysplasin‐a receptor (EDAR) signaling alters multiple fiber characteristics to produce the east Asian hair form;Mou C.;Human Mutation,2008
5. Functional analysis of ectodysplasin‐a mutations causing selective tooth agenesis;Mues G.;European Journal of Human Genetics: EJHG,2010
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