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

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

Abstract 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 str...

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Bibliographic Details
Main Authors: Huifang Yan, Zhen Shi, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Ming Li, Kai Gao, Yinyin Chen, Xiaoping Yang, Haoran Ji, Binbin Cao, Ruoyu Duan, Yuwu Jiang, Jingmin Wang
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Developmental delay
Intellectual disability
Genetic diagnosis
Next generation sequencing
Pathogenicity
Online Access:http://link.springer.com/article/10.1186/s12881-019-0794-y

Internet

http://link.springer.com/article/10.1186/s12881-019-0794-y

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