Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Michael Stephen HildebrandRuth O BradenMariana L LaurettaAntony KaspiRichard J LeventerMelinda AndersonHimanshu GoelMelanie BahloIngrid Eileen SchefferDavid J AmorRobert JanowskiDierk NiessingAngela T MorganPublished in: Neurology. Genetics (2024)
testing should be considered in families with primary speech disorder and borderline intellectual disability, given the specific genetic counseling implications.