ENAM mutations and digenic inheritance

Abstract Background ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective. Methods Whole exome sequences of recruited AI probands were initially screened fo...

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Bibliographic Details
Main Authors: Hong Zhang, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Shih‐Kai Wang, John Timothy Wright, Michael W. Havel, Chuhua Zhang, Jung‐Wook Kim, James P. Simmer, Jan C.‐C. Hu
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.928