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Article

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

Italian journal of pediatrics - 2 Jul 2021

Donnarumma Bernadette, Riccio Maria Pia, Terrone Gaetano, Palma Melania, Strisciuglio Pietro, Scala Iris

Abstract excerpt

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 features; however, still few patients receive a comprehensive psychometric, behavioral and neurological examination. In this...

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Identifiers

PMID: 34215294
DOI: 10.1186/s13052-021-01101-9
PMCID: PMC8254207

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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