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Article

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

European journal of human genetics : EJHG - 1 May 2012

Amouroux Cyril, Vincent Marie, Blanchet Patricia, Puechberty Jacques, Schneider Anouck, Chaze Anne Marie, Girard Manon, Tournaire Magali, Jorgensen Christian, Morin Denis, Sarda Pierre, Lefort Geneviève, Geneviève David

Abstract excerpt

Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or Wildervanck syndrome and chromosomal anomalies such as 12q12 deletion. We report on the case of a patient with DRS, developmental delay and particular facial features...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 8

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Share to CHD7 gene

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Source

Open in PubMed Open full text

Identifiers

PMID: 22258531
DOI: 10.1038/ejhg.2011.243
PMCID: PMC3330221

Genes

CHD7

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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