RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects

• Váldodahkkit: Simin Zheng (Dahkki), Huanyang Huang (Dahkki), Li Ma (Dahkki), Tianwen Zhu (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2022-08-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background There are limited information available related to neonatal characteristics of RASopathies, a group of autosomal dominant syndromes with considerable phenotypic overlap. Methods The retrospective review revealed 9 neonates born with congenital heart defects (CHDs) and diagnosed a...