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Article

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

European journal of human genetics : EJHG - 1 Nov 2011

Ghoumid Jamal, Andrieux Joris, Sablonnière Bernard, Odent Sylvie, Philippe Nathalie, Zanlonghi Xavier, Saugier-Veber Pascale, Bardyn Thomas, Manouvrier-Hanu Sylvie, Holder-Espinasse Muriel

Abstract excerpt

HOXD genes encode transcription factors involved in the antero-posterior patterning of the limb bud and in the specification of fingers. During the embryo development, HOXD genes are expressed, following a spatio-temporal colinearity that involves at least three regions, centrometric and telomeric to this cluster. Here, we describe a father and a daughter presenting a 3-4 hand bilateral syndactyly associated with...

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Topics

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Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Karyotype

Share to Nystagmus, Pathologic

Share to Radiography

Share to Syndactyly

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Source

Open in PubMed Open full text

Identifiers

PMID: 21654727
DOI: 10.1038/ejhg.2011.95
PMCID: PMC3198150

Genes

HOXD10
HOXD12
HOXD13

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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