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

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 gen...

詳細記述

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書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Andreoni, Francesca, Sgattoni, Claudia, Bencardino, Daniela, Simonetti, Oriana, Forabosco, Antonino, Magnani, Mauro
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7963410/
https://ncbi.nlm.nih.gov/pubmed/33205897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1555
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