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

Zhenglong Guo Jie Bai Yang Liu Xianwei Zhang Wenke Yang Jinming Wang Yuwei Zhang Hai Xiao Bingtao Hao Shixiu Liao

Acta Biochimica et Biophysica Sinica2025，Vol.57Issue(6)：P.1020-1028,9.

Acta Biochimica et Biophysica Sinica2025，Vol.57Issue(6)：P.1020-1028,9.DOI:10.3724/abbs.2024204

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

Zhenglong Guo ¹Jie Bai ¹Yang Liu ¹Xianwei Zhang ¹Wenke Yang ¹Jinming Wang ¹Yuwei Zhang ¹Hai Xiao ¹Bingtao Hao ²Shixiu Liao¹

作者信息

1. Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics,Medical Genetics Institute of Henan Province,Henan Provincial People''s Hospital,People''s Hospital of Zhengzhou University,Zhengzhou 450000,China School of Medicine,People''s Hospital of Henan University,Henan University,Zhengzhou 450000,China
2. Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics,Medical Genetics Institute of Henan Province,Henan Provincial People''s Hospital,People''s Hospital of Zhengzhou University,Zhengzhou 450000,China Department of Immunology,School of Basic Medical Sciences,Zhengzhou University,Zhengzhou 450001,China Henan Eye Institute,Henan Academy of Innovations in Medical Science,Zhengzhou 450000,China
折叠

摘要

关键词

SMARCB1/SWI/SNF/neurodevelopmental disorder/meningioma

分类

医药卫生

引用本文复制引用

Zhenglong Guo,Jie Bai,Yang Liu,Xianwei Zhang,Wenke Yang,Jinming Wang,Yuwei Zhang,Hai Xiao,Bingtao Hao,Shixiu Liao..A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma[J].Acta Biochimica et Biophysica Sinica,2025,57(6):P.1020-1028,9.

基金项目

supported by the grants from the National Natural Science Foundation of China(Nos.32300627 to Z.G.,32170885 and 32370939 to B.H.,82371864 to S.L.) （Nos.32300627 to Z.G.,32170885 and 32370939 to B.H.,82371864 to S.L.）

the Natural Science Foundation of Henan Province(Nos.232300421281 to Z.G.and 232300421121 to S.L.) （Nos.232300421281 to Z.G.and 232300421121 to S.L.）

the Young Talents of Health Science and Technology Innovation in Henan Province(Nos.YQRC2023010 to Z.G.and YXKC2021002 to B.H.) （Nos.YQRC2023010 to Z.G.and YXKC2021002 to B.H.）

the Major Projects Jointly Constructed by Henan Province and the Ministry of Science and Technology(No.SBGJ202101003 to S.L.). （No.SBGJ202101003 to S.L.）

Acta Biochimica et Biophysica Sinica

ISSN：1672-9145

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