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?

• मुख्य लेखकों: Mario Tumminello (लेखक), Antonella Gangemi (लेखक), Federico Matina (लेखक), Melania Guardino (लेखक), Bianca Lea Giuffrè (लेखक), Giovanni Corsello (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2021-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...