A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
The combination of clinical presentation and genetic testing results supports that the patient suffers from Coffin-Siris syndrome due to a genetic variant in the SOX11 gene. This de novo variant expands our understanding of human gene variation, which is conducive to genetic counseling and screening for early diagnosis of Coffin-Siris syndrome.
Authors
- Guihua Bai (ORCID: https://orcid.org/0000-0002-1194-319X)
- Rodger Yuan (ORCID: https://orcid.org/0000-0003-1810-8872)
- Shaozhi Zhao (ORCID: https://orcid.org/0000-0001-7527-5226)
- Jian Yuan (ORCID: https://orcid.org/0000-0001-9734-6056)
- Xinwen Zhang (ORCID: https://orcid.org/0000-0002-7662-2370)
- Yanqin Liu
Institutions
- Xi’an Children’s Hospital (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-11-05
- DOI
- https://doi.org/10.1186/s12920-024-02036-w
- Citations
- 1
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.23