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Article

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

Journal of medical genetics - 1 Mar 2006

Kjaer K W, Eiberg H, Hansen L, van der Hagen C B, Rosendahl K, Tommerup N, Mundlos S

Abstract excerpt

BACKGROUND: Brachydactyly type A2 (OMIM 112600) is characterised by hypoplasia/aplasia of the second middle phalanx of the index finger and sometimes the little finger. BDA2 was first described by Mohr and Wriedt in a large Danish/Norwegian kindred and mutations in BMPR1B were recently demonstrated in two affected families. METHODS: We found and reviewed Mohr and Wriedt's original unpublished annotations, updated...

Topics

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Binding Sites
Bone Morphogenetic Protein Receptors, Type I
Bone Morphogenetic Proteins
Chromosome Mapping
DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Growth Differentiation Factor 5

Hand Deformities, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 16014698
DOI: 10.1136/jmg.2005.034058
PMCID: PMC2563247

Genes

GDF5
BMP2
STS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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