Publication | Open Access

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsFragile X SpectrumUsp9x CauseMolecular GeneticsFemale-specific Recognizable SyndromeAbnormal DevelopmentMedicineEmbryologyCongenital MalformationsDevelopmental Delay