Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot

BACKGROUND: Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). The clinical characteristics of this disorder have not been entirely determined because of the rarity of cl...

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Detalles Bibliográficos
Autores principales: Sun, Hairui, Zhang, Siyao, Wang, Jingyi, Zhou, Xiaoxue, Zhang, Hongjia, Yang, Huixia, He, Yihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895577/
https://www.ncbi.nlm.nih.gov/pubmed/35241061
http://dx.doi.org/10.1186/s12920-022-01185-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895577/
https://www.ncbi.nlm.nih.gov/pubmed/35241061
http://dx.doi.org/10.1186/s12920-022-01185-0

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