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Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hyp...

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Detalles Bibliográficos
Autores principales:	Wang, Yan, Peng, Wei, Guo, Hong-Yan, Li, Hui, Tian, Jie, Shi, Yu-Jing, Yang, Xiao, Yang, Yao, Zhang, Wan-Qiao, Liu, Xin, Liu, Guan-Nan, Deng, Tao, Sun, Yi-Min, Xing, Wan-li, Cheng, Jing, Feng, Zhi-Chun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926250/ https://www.ncbi.nlm.nih.gov/pubmed/27353517 http://dx.doi.org/10.1038/srep29088

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