A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma

SMARCB1 encodes a core subunit of the SWI/SNF chromatin remodeling complex, which plays a crucial role in the regulation of gene expression. Germline mutations in the SMARCB1 gene have been linked to early childhood Coffin-Siris syndrome type 3 (CSS3), a rare congenital malforma...

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Bibliographic Details
Main Authors: Guo Zhenglong, Bai Jie, Liu Yang, Zhang Xianwei, Yang Wenke, Wang Jinming, Zhang Yuwei, Xiao Hai, Hao Bingtao, Liao Shixiu
Format: Article
Language:English
Published: China Science Publishing & Media Ltd. 2024-11-01
Series:Acta Biochimica et Biophysica Sinica
Subjects:
SMARCB1
SWI/SNF
neurodevelopmental disorder
meningioma
Online Access:https://www.sciengine.com/doi/10.3724/abbs.2024204
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