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

• Main Authors: Hairui Sun (Author), Siyao Zhang (Author), Jingyi Wang (Author), Xiaoxue Zhou (Author), Hongjia Zhang (Author), Huixia Yang (Author), Yihua He (Author)
• Format: Book
• Published: BMC, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 rari...