17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
18 citations
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August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
195 citations
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June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.