No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

BACKGROUND: X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic disorder, affects the normal development of ectodermal derivatives, such as hair, skin, teeth, and sweat glands. It is caused by pathogenic variants of the gene EDA and defined by a triad of hypotrichosis, hypo- or anodon...

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Detalles Bibliográficos
Autores principales: Körber, Laura, Schneider, Holm, Fleischer, Nicole, Maier-Wohlfart, Sigrun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901220/
https://www.ncbi.nlm.nih.gov/pubmed/33622384
http://dx.doi.org/10.1186/s13023-021-01735-2

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