A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing

ConclusionThis is the first report of NDD caused by aBCL11B variant in a Chinese population. The mutation identified in this report broadens the knowledge of mutation spectrum ofBCL11B and might help in genetic counseling and reducing reproductive risk.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.897?af=R

Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Fengchang Qiao, Chen Wang, Chunyu Luo, Yan Wang, Binbin Shao, Jianxin Tan, Ping Hu, Zhengfeng Xu Tags: CLINICAL REPORT Source Type: research