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?

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?

Abstract 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 f...

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Bibliographic Details
Main Authors: Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Italian Journal of Pediatrics
Subjects:
Hypoidrotic ectodermal dysplasia
X-linked
EDA gene
Variants of uncertain significance (VUS)
Online Access:https://doi.org/10.1186/s13052-021-01078-5

Internet

https://doi.org/10.1186/s13052-021-01078-5

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