White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

• Published in: Clinical genetics
• Main Authors: Facchini, Anna, Concas, Maria Pina, Zampieri, Stefania, Scala, Iris, Graziano, Claudio, Innoceta, Anna Maria, Trivisano, Marina, De Dominicis, Angela, Trimarchi, Gabriele, Garavelli, Livia, Baldassarri, Margherita, De Maggio, Ilaria, Mari, Francesca, Greco, Donatella, Gasparini, Paolo
• Format: Journal Article
• Language: English
• Published: 23.07.2025

White–Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder due to pathogenic variants in the POGZ gene. Its phenotype includes developmental delay, behavioral dysfunctions, hypotonia, and dysmorphic features. The condition is still poorly known: comprehensive clinical descriptions and exhau...