A de novo variant of BICRA results in Coffin–Siris syndrome 12

A de novo variant of BICRA results in Coffin–Siris syndrome 12

Abstract Background BICRA, a transcript regulator, was identified as the genetic factor of Coffin–Siris syndrome 12 (CSS12) recently, which was characterized by diverse neurodevelopmental delays. Up to now, limited studies of BICRA in neurodevelopmental delay have been reported. Methods Clinical dat...

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Bibliographic Details
Main Authors: Youquan Tu, Chunyan Fang, Jian Xu, Yun Zhou, Mengmeng Liang, Zuozhen Yang
Format: Article
Language:English
Published: Wiley 2023-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
BICRA
Coffin–Siris syndrome 12
developmental delay
stop gain
variant
Online Access:https://doi.org/10.1002/mgg3.2250

Internet

https://doi.org/10.1002/mgg3.2250

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