ArticleClinical genetics2026
White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.
Article in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.Clinical genetics · 2026Article
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Authors and funding
15 authors.
Funding
Abstract
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 molecular, clinical, and instrumental data from the first and largest Italian cohort (19 patients). Our results highlight the importance of an extensive approach at the time of diagnosis-including early nutritional support for preventing obesity-related complications and instrumental screening for congenital malformations. Preliminary data suggest that splicing variants could be associated with more severe phenotypes. This study provides valuable new insights into WHSUS and represents a significant step towards its comprehension.
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