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Article

Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.

The Journal of dermatology - 1 Oct 2021

Asano Nobuyuki, Yasuno Shuichiro, Hayashi Ryota, Shimomura Yutaka

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by hypohidrosis, hypodontia, and hypotrichosis. Autosomal forms of the disease are caused by mutations in either EDAR or EDARADD. To date, the underlying pathomechanisms for HED resulting from EDARADD mutations have not fully been disclosed. In this study, we performed detailed in vitro analyses in order to characterize three dominantly...

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Identifiers

PMID: 34219261
DOI: 10.1111/1346-8138.16044

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Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.PMID 34219261Read ↗

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