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

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

Abstract Background Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and neural systems. Methods Herein, we d...

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Bibliographic Details
Main Authors: Fengchang Qiao, Chen Wang, Chunyu Luo, Yan Wang, Binbin Shao, Jianxin Tan, Ping Hu, Zhengfeng Xu
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
BCL11B
developmental delay
intellectual disability
neurodevelopment
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.897

Internet

https://doi.org/10.1002/mgg3.897

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