Ontology highlight
ABSTRACT:
SUBMITTER: Qiao F
PROVIDER: S-EPMC6732278 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Qiao Fengchang F Wang Chen C Luo Chunyu C Wang Yan Y Shao Binbin B Tan Jianxin J Hu Ping P Xu Zhengfeng Z
Molecular genetics & genomic medicine 20190725 9
<h4>Background</h4>Next-generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys<sub>2</sub> His<sub>2</sub> zinc finger transcription factor, is essential for the development of immune and neural systems.<h4>Methods</h4>Herein, we describe a Chinese girl presenting craniofacial abnormalities, developmental delay and intellectual disability with speech impairment. Exomes of genes were enriched with th ...[more]