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

• Main Authors: Huifang Yan (Author), Zhen Shi (Author), Ye Wu (Author), Jiangxi Xiao (Author), Qiang Gu (Author), Yanling Yang (Author), Ming Li (Author), Kai Gao (Author), Yinyin Chen (Author), Xiaoping Yang (Author), Haoran Ji (Author), Binbin Cao (Author), Ruoyu Duan (Author), Yuwu Jiang (Author), Jingmin Wang (Author)
• Format: Book
• Published: BMC, 2019-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...