Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9

SOX11 is a transcription factor belonging to the sex determining region Y-related high-mobility group box family that plays a vital role in early embryogenesis and neurogenesis. De novo variants in SOX11 have been initially reported to cause a rare neurodevelopmental disorder, mainly referred to Cof...

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Bibliographic Details
Main Authors: Yu Ding, Jiande Chen, Yijun Tang, Li-Na Chen, Ru-En Yao, Tingting Yu, Yong Yin, Xiumin Wang, Jian Wang, Niu Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
SOX11
coffin-siris syndrome
missense variants
functional study
phenotypic differences
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.940776/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.940776/full

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