Novel Variant in the < b > < i > USP9X < /i > < /b > Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review

Conclusion: We provide an overview of the available literature onUSP9X variants in males, in order to further expand the genotypic and phenotypic landscape of male-restricted X-linked mental retardation syndrome. Our findings confirm the involvement ofUSP9X variants in neuronal development and corroborate the possible association between the novelUSP9X variant and congenital heart malformation.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research