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Exome sequencing improves genetic diagnosis of congenital orofacial clefts

Objective: This retrospective study aims to evaluate the utility of exome sequencing (ES) in identifying genetic causes of congenital orofacial clefts (OFCs) in fetuses with or without other structural abnormalities, and to further explore congenital OFCs genetic causes. Methods: The study enrolled...

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Detalles Bibliográficos
Autores principales: Yan, Shujuan, Fu, Fang, Li, Ru, Yu, Qiuxia, Li, Fucheng, Zhou, Hang, Wang, You, Huang, Ruibin, Ma, Chunling, Guo, Fei, Wang, Dan, Yang, Xin, Han, Jin, Lei, Tingyin, Li, Dongzhi, Liao, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512413/
https://www.ncbi.nlm.nih.gov/pubmed/37745857
http://dx.doi.org/10.3389/fgene.2023.1252823