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Article

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Journal of medical genetics - 1 Feb 2011

Dimitrov Boyan, Balikova Irina, de Ravel Thomy, Van Esch Hilde, De Smedt Maryse, Baten Emiel, Vermeesch Joris Robert, Bradinova Irena, Simeonov Emil, Devriendt Koen, Fryns Jean-Pierre, Debeer Philippe

Abstract excerpt

INTRODUCTION: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. Additional internal organ anomalies-for example, heart defects, ocular anomalies-may be present. Hemizygosity for HOXD13 and EVX2 genes was thought to cause the observed skeletal defects. Recently, based on the phenotype of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Artificial, Bacterial

Share to Chromosomes, Human, Pair 2

Share to Comparative Genomic Hybridization

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Share to Limb Deformities, Congenital

Source

Identifiers

PMID: 21068127
DOI: 10.1136/jmg.2010.079491

Genes

EVX2
DLX1
DLX2
HOXD13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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