Congenital heart disease associated with pathogenic variants of the WAC gene: expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome
2022-01-08
This article was originally published here Am J Med Genet A. 2022 January 8. doi: 10.1002 / ajmg.a.62636. Online ahead of print. ABSTRACT WAC-related intellectual disability, also known as DeSanto-Shinawi syndrome, is a rare autosomal dominant genetic disorder caused by pathogenic variants of the WAC gene. This syndrome is characterizedRead More →
