De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

We report the first affected females harboring de novo SNVs inARHGEF9, expanding the genotypic and phenotypic spectrum ofARHGEF9-related neurodevelopmental disorder in females.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research