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Article

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

European journal of human genetics : EJHG - 1 Jun 2014

Graul-Neumann Luitgard M, Deichsel Alexandra, Wille Ulrike, Kakar Naseebullah, Koll Randi, Bassir Christian, Ahmad Jamil, Cormier-Daire Valerie, Mundlos Stefan, Kubisch Christian, Borck Guntram, Klopocki Eva, Mueller Thomas D, Doelken Sandra C, Seemann Petra

Abstract excerpt

Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous families with missense (c.157T>C, p.(C53R)) or nonsense (c.657G>A, p.(W219*)) mutations in BMPR1B. Homozygous affected individuals show clinical and radiographic...

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Identifiers

PMID: 24129431
DOI: 10.1038/ejhg.2013.222
PMCID: PMC4023204

Genes

ACD
GDF5

Variants

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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