Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population

Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the identification of causative genes and mutations. Recently, targeted next-generation (NGS) sequencing has been successfully used for the dete...

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Detalles Bibliográficos
Autores principales: Qin, Litao, Lou, Guiyu, Guo, Liangjie, Zhang, Yuwei, Wang, Hongdan, Wang, Li, Hou, Qiaofang, Liu, Hongyan, Li, Xichuan, Liao, Shixiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109141/
https://www.ncbi.nlm.nih.gov/pubmed/30143665
http://dx.doi.org/10.1038/s41598-018-30940-6

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