Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome...

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Detalles Bibliográficos
Autores principales: Wang, Qiuquan, Wu, Jie, Yang, Jinyuan, Huang, Shasha, Yuan, Yongyi, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10100107/
https://www.ncbi.nlm.nih.gov/pubmed/36369738
http://dx.doi.org/10.1002/ajmg.a.63011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10100107/
https://www.ncbi.nlm.nih.gov/pubmed/36369738
http://dx.doi.org/10.1002/ajmg.a.63011

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