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

• Hauptverfasser: Hairui Sun (Verfasst von), Siyao Zhang (Verfasst von), Jingyi Wang (Verfasst von), Xiaoxue Zhou (Verfasst von), Hongjia Zhang (Verfasst von), Huixia Yang (Verfasst von), Yihua He (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2022-03-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: 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...