Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood
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Background/Objectives: White-Sutton syndrome (WHSUS; OMIM 616364) is a rare neurodevelopmental disorder caused by pathogenic variants in the POGZ gene and characterized by developmental delay, intellectual disability, speech impairment, autism spectrum feature... ...
