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Article

Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.

Neuropediatrics - 1 Jan 2016

Orivoli Sonia, Pavlidis Elena, Cantalupo Gaetano, Pezzella Marianna, Zara Federico, Garavelli Livia, Pisani Francesco, Piccolo Benedetta

Abstract excerpt

Xp11.22 microduplications have been reported in different patients with X-linked intellectual disability. Comparing the duplicated segments, a minimum region of overlap has been identified. Within this region, only one gene, the HUWE1 gene, coding the E3 ubiquitin protein ligase, turned out to be duplicated in all previously described patients. We provide a review of the literature on this topic, making a...

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Source

Identifiers

PMID: 26587761
DOI: 10.1055/s-0035-1566233

Genes

HUWE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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