PARD3 gene variation as candidate cause of nonsyndromic cleft palate only

Nonsyndromic cleft palate only (NSCP) is a common congenital malformation worldwide. In this study, we report a three‐generation pedigree with NSCP following the autosomal‐dominant pattern. Whole‐exome sequencing and Sanger sequencing revealed that only the frameshift variant c.1012dupG [p. E338Gfs*...

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Detalles Bibliográficos
Autores principales: Cui, Renjie, Chen, Dingli, Li, Na, Cai, Ming, Wan, Teng, Zhang, Xueqiang, Zhang, Meiqin, Du, Sichen, Ou, Huayuan, Jiao, Jianjun, Jiang, Nan, Zhao, Shuangxia, Song, Huaidong, Song, Xuedong, Ma, Duan, Zhang, Jin, Li, Shouxia
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/PMC9344820/
https://www.ncbi.nlm.nih.gov/pubmed/35789100
http://dx.doi.org/10.1111/jcmm.17452

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