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?

• Main Authors: Mario Tumminello (Author), Antonella Gangemi (Author), Federico Matina (Author), Melania Guardino (Author), Bianca Lea Giuffrè (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...