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

Francesca Andreoni, Claudia Sgattoni,Daniela Bencardino,Oriana Simonetti,Antonino Forabosco,Mauro Magnani

Molecular genetics & genomic medicine（2020）

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摘要

Our findings provide evidence of variable expression of HED in heterozygous females, which should be considered for genetic counseling, and different modes of inheritance related to tooth development.

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关键词

EDA , EDAR ,ectodermal dysplasia,hypodontia

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