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Article

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

Clinical genetics - 1 Feb 2026

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

Abstract excerpt

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 exhaustive genotype-phenotype correlations are lacking, limiting diagnostic and therapeutic advancements. Here, we report...

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Identifiers

PMID: 41499647
DOI: 10.1111/cge.70029
PMCID: PMC12779215

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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