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Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis

18 Nov 2020

Abstract excerpt

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is the most common form of ectodermal dysplasia and is mainly associated with mutations in the EDA, EDAR, and EDARADD responsible for the development of ectodermal-derived structures. HED displays different modes of inheritance according to the gene that is involved, with X-linked EDA-related HED being the most frequent form of the disease. METHODS: Two families...

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PMID: 33205897
DOI: 10.1002/mgg3.1555

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