A novel c.916C>A EDA gene pathogenic variant in a boy with X‐Linked Hypohidrotic Ectodermal Dysplasia

xloma.fota13 shared this article with you from Inoreader A novel c.916C>A EDA gene pathogenic variant in a boy with X‐Linked Hypohidrotic Ectodermal Dysplasia Via Clinical and Experimental Dermatology Abstract A 17‐month old boy was referred to the genetic clinic in view of anodontia, hypohidrosis, scalp hypotrichosis, atrichia of the eyelashes, xerotic skin and a short columella. A diagnosis of X‐Linked hypohidrotic ectodermal dysplasia (XLHED) was considered. The boy was born to healthy non‐consanguineous parents of Maltese‐Caucasian ethnicity at 38 weeks by emergency lower segment Caesarean section in view of fetal decelerations in the setting of documented intrauterine growth restriction (birth weight was 2.49kg [2.5th centile for age]). The genetic family history of the patient was unremarkable. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.