A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance

BACKGROUND: Amelogenesis imperfecta (AI) is known to be a monogenic genetic disease caused by a variety of genes demonstrating a wide spectrum of penetrance. FAM83H is reported to be involved in AI: however, whether FAM83H causes AI with incomplete penetrance is unclear. METHODS: Whole‐exome sequenc...

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Detalles Bibliográficos
Autores principales: Bai, Rui‐Qi, He, Wen‐Bin, Peng, Qian, Shen, Su‐Hui, Yu, Qian‐Qian, Du, Juan, Tan, Yue‐Qiu, Wang, Yue‐Hong, Liu, Bin‐Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000937/
https://www.ncbi.nlm.nih.gov/pubmed/35212465
http://dx.doi.org/10.1002/mgg3.1902

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