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Article

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

American journal of medical genetics. Part A - 1 Aug 2017

Lévy Jonathan, Coussement Aurélie, Dupont Céline, Guimiot Fabien, Baumann Clarisse, Viot Géraldine, Passemard Sandrine, Capri Yline, Drunat Séverine, Verloes Alain, Pipiras Eva, Benzacken Brigitte, Dupont Jean-Michel, Tabet Anne-Claude

Abstract excerpt

Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability, developmental delay, autism spectrum disorders, microcephaly, short stature, dysmorphic features, and multiple congenital organ defects. It is defined as a contiguous gene syndrome and two critical regions have been proposed at 2p15 and 2p16.1 loci. Nevertheless,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28573701
DOI: 10.1002/ajmg.a.38302

Genes

PAPOLG
USP34
XPO1

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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