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Article

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

Orphanet journal of rare diseases - 24 Jun 2015

Stange Katja, Désir Julie, Kakar Naseebullah, Mueller Thomas D, Budde Birgit S, Gordon Christopher T, Horn Denise, Seemann Petra, Borck Guntram

Abstract excerpt

BACKGROUND: Grebe dysplasia, Hunter-Thompson dysplasia, and du Pan dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by short stature, severe acromesomelic shortening of the limbs, and normal axial skeleton. The majority of patients with these disorders have biallelic loss-of-function mutations of GDF5. In single instances, Grebe dysplasia and a Grebe...

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Share to GDF5 gene
Share to Bone Morphogenetic Protein Receptors, Type I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26105076
DOI: 10.1186/s13023-015-0299-5
PMCID: PMC4482310

Genes

GDF5

Variants

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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