9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
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.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.