Mosaicism of a Truncating Variant of < b > < i > CASK < /i > < /b > Causes Congenital Heart Disease and Neurodevelopmental Disorder

Discussion: TruncatingCASK variants may be associated with CHD, even in a mosaic state, and even a low normal allele ratio could lengthen survivorship.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research