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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Detalles Bibliográficos
Autores principales: Ding, Yu, Chen, Jiande, Tang, Yijun, Chen, Li-Na, Yao, Ru-En, Yu, Tingting, Yin, Yong, Wang, Xiumin, Wang, Jian, Li, Niu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354949/
https://www.ncbi.nlm.nih.gov/pubmed/35938035
http://dx.doi.org/10.3389/fgene.2022.940776

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354949/
https://www.ncbi.nlm.nih.gov/pubmed/35938035
http://dx.doi.org/10.3389/fgene.2022.940776

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