No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
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 va...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Laura K örber, Holm Schneider, Nicole Fleischer and Sigrun Maier-Wohlfart Tags: Research Source Type: research