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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...

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Detalles Bibliográficos
Autores principales: Andreoni, Francesca, Sgattoni, Claudia, Bencardino, Daniela, Simonetti, Oriana, Forabosco, Antonino, Magnani, Mauro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963410/
https://www.ncbi.nlm.nih.gov/pubmed/33205897
http://dx.doi.org/10.1002/mgg3.1555