First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

BACKGROUND: Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features...

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Detalles Bibliográficos
Autores principales: Tumminello, Mario, Gangemi, Antonella, Matina, Federico, Guardino, Melania, Giuffrè, Bianca Lea, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173841/
https://www.ncbi.nlm.nih.gov/pubmed/34078430
http://dx.doi.org/10.1186/s13052-021-01078-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173841/
https://www.ncbi.nlm.nih.gov/pubmed/34078430
http://dx.doi.org/10.1186/s13052-021-01078-5

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