Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

BACKGROUND: Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks a specific diagnosis. Next generation sequencing, enabling identification of genetic variations in multiple genes, has become an efficient strategy fo...

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Publicat a:BMC Med Genet
Autors principals: Yan, Huifang, Shi, Zhen, Wu, Ye, Xiao, Jiangxi, Gu, Qiang, Yang, Yanling, Li, Ming, Gao, Kai, Chen, Yinyin, Yang, Xiaoping, Ji, Haoran, Cao, Binbin, Duan, Ruoyu, Jiang, Yuwu, Wang, Jingmin
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6518638/
https://ncbi.nlm.nih.gov/pubmed/31088393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0794-y
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