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Article

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

Journal of medical genetics - 1 Apr 2005

Demirhan O, Türkmen S, Schwabe G C, Soyupak S, Akgül E, Tastemir D, Karahan D, Mundlos S, Lehmann K

Abstract excerpt

We present a patient with acromesomelic chondrodysplasia and genital anomalies caused by a novel homozygous mutation in BMPR1B, the gene coding for bone morphogenetic protein receptor 1B. The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar deviation of the hands, and fusion of carpal/tarsal...

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Share to Bone Morphogenetic Protein Receptors, Type I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Differentiation Factor 5

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Source

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Identifiers

PMID: 15805157
DOI: 10.1136/jmg.2004.023564
PMCID: PMC1736042

Genes

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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