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

ConclusionOur results expanded the pathogenic genetic and clinical spectrum of BICRA-related diseases.

https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2250?af=R

Source: Molecular Genetics & Genomic Medicine - July 24, 2023 Category: Genetics & Stem Cells Authors: Youquan Tu, Chunyan Fang, Jian Xu, Yun Zhou, Mengmeng Liang, Zuozhen Yang Tags: CLINICAL REPORT Source Type: research