Mutations in theEDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

Mutations in theEDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia

Published:2001 Issue:3 Volume:100 Page:191-197
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kobielak Krzysztof,Kobielak Agnieszka,Roszkiewicz Jadwiga,Wierzba Jolanta,Limon Janusz,Trzeciak Wiestaw Henryk

Publisher

Wiley

Subject

Genetics(clinical)

Reference18 articles.

1. The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats

2. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

3. Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain

4. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.

5. Schirmer Test of Lacrimation: Its Clinical Importance

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3. Molecular basis of hypohidrotic ectodermal dysplasia: an update;Journal of Applied Genetics;2015-08-21

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5. Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia;Clinical Genetics;2014-05-30