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Article

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

American journal of human genetics - 1 Apr 2009

Dathe Katarina, Kjaer Klaus W, Brehm Anja, Meinecke Peter, Nürnberg Peter, Neto Jordao C, Brunoni Decio, Tommerup Nils, Ott Claus E, Klopocki Eva, Seemann Petra, Mundlos Stefan

Abstract excerpt

Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5). A linkage analysis performed in a mutation-negative family identified a novel locus for BDA2 on chromosome 20p12.3...

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Topics

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Share to Bone Morphogenetic Protein 2
Share to Chromosomes, Human, Pair 20

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Fingers

Share to Gene Duplication

Share to Limb Deformities, Congenital

Share to Regulatory Elements, Transcriptional

Share to Tandem Repeat Sequences

Source

Open in PubMed Open full text

Identifiers

PMID: 19327734
DOI: 10.1016/j.ajhg.2009.03.001
PMCID: PMC2667973

Genes

BMP2
GDF5

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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Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.PMID 19327734Read ↗

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