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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Andreoni, Francesca, Sgattoni, Claudia, Bencardino, Daniela, Simonetti, Oriana, Forabosco, Antonino, Magnani, Mauro
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Online dostop: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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