Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

• Auteurs principaux: Bernadette Donnarumma (Auteur), Maria Pia Riccio (Auteur), Gaetano Terrone (Auteur), Melania Palma (Auteur), Pietro Strisciuglio (Auteur), Iris Scala (Auteur)
• Format: Livre
• Publié: BMC, 2021-07-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS feature...