New POGZ Nonsense Variant Expands the Genetic Spectrum of White-Sutton Syndrome
This case report describes a previously unreported nonsense (protein-truncating) variant in the POGZ gene identified in an individual with White-Sutton syndrome. The finding adds to the growing list of known disease-causing variants and helps broaden our understanding of the genetic spectrum of this condition. Case reports like this are valuable for improving diagnosis and genetic counseling for affected families.









