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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |