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Article

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

American journal of medical genetics. Part A - 1 Mar 2014

Gimelli Stefania, Stathaki Elisavet, Béna Frédérique, Leoni Massimiliano, Di Rocco Maja, Cuoco Cristina, Tassano Elisa

Abstract excerpt

Whole genome profiling such as array comparative genomic hybridization has identified novel genomic imbalances. Copy number studies led to an explosion of the discoveries of new segmental duplication-mediated deletions and duplications. These rearrangements are mostly the result of non-allelic homologous recombination (NAHR) between low-copy repeats or segmental duplications. We have identified an individual with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24591035
DOI: 10.1002/ajmg.a.36357

Genes

AMER3
ARHGEF4
PLEKHB2

Provenance

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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