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

Internet

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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