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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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Detalles Bibliográficos
Autores principales:	Gökdere, Sare, Schneider, Holm, Hehr, Ute, Willen, Laure, Schneider, Pascal, Maier-Wohlfart, Sigrun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9339965/ https://www.ncbi.nlm.nih.gov/pubmed/35923710 http://dx.doi.org/10.3389/fgene.2022.934395

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