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Article

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Genes - 22 Jun 2021

Trimarchi Gabriele, Caraffi Stefano Giuseppe, Radio Francesca Clementina, Barresi Sabina, Contrò Gianluca, Pizzi Simone, Maini Ilenia, Pollazzon Marzia, Fusco Carlo, Sassi Silvia, Nicoli Davide, Napoli Manuela, Pascarella Rosario, Gargano Giancarlo, Zuffardi Orsetta, Tartaglia Marco, Garavelli Livia

Abstract excerpt

One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White-Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the long arm of chromosome 1 (1q21.3). So far, more than 50 individuals have been reported worldwide, although...

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Identifiers

PMID: 34206215
DOI: 10.3390/genes12070950
PMCID: PMC8303405

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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