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

BACKGROUND: Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys(2)His(2) zinc finger transcription factor, is essential for the development of immune and neural systems. METHODS: Herein, we desc...

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Detalles Bibliográficos
Autores principales: Qiao, Fengchang, Wang, Chen, Luo, Chunyu, Wang, Yan, Shao, Binbin, Tan, Jianxin, Hu, Ping, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732278/
https://www.ncbi.nlm.nih.gov/pubmed/31347296
http://dx.doi.org/10.1002/mgg3.897

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732278/
https://www.ncbi.nlm.nih.gov/pubmed/31347296
http://dx.doi.org/10.1002/mgg3.897

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