ENAM mutations and digenic inheritance

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 for mutat...

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Detalles Bibliográficos
Autores principales: Zhang, Hong, Hu, Yuanyuan, Seymen, Figen, Koruyucu, Mine, Kasimoglu, Yelda, Wang, Shih‐Kai, Wright, John Timothy, Havel, Michael W., Zhang, Chuhua, Kim, Jung‐Wook, Simmer, James P., Hu, Jan C.‐C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785452/
https://www.ncbi.nlm.nih.gov/pubmed/31478359
http://dx.doi.org/10.1002/mgg3.928

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785452/
https://www.ncbi.nlm.nih.gov/pubmed/31478359
http://dx.doi.org/10.1002/mgg3.928

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