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Article

Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.

Congenital anomalies - 1 Aug 2015

Shimojima Keiko, Okamoto Nobuhiko, Yamamoto Toshiyuki

Abstract excerpt

Many new microdeletion syndromes have been characterized in the past decade, including 2p15-p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15-p16.1 microdeletion syndrome. All patients showed variable degrees of intellectual disability, with the autistic features characteristic of this syndrome. Seven out of 16...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25900130
DOI: 10.1111/cga.12112

Genes

USP34
XPO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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