Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

Deficiency of ectodysplasin A1 (EDA1) due to variants of the gene EDA causes X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic condition characterized by abnormal development of ectodermal structures. XLHED is defined by the triad of hypotrichosis, hypo- or anhidrosis, and hypo- or...

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Bibliographic Details
Main Authors: Sare Gökdere, Holm Schneider, Ute Hehr, Laure Willen, Pascal Schneider, Sigrun Maier-Wohlfart
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
X-linked hypohidrotic ectodermal dysplasia
ectodysplasin A
variants of uncertain significance
in silico analysis
functional studies
serum EDA concentration
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.934395/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.934395/full

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