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Article

The mutational spectrum of brachydactyly type C.

American journal of medical genetics - 15 Oct 2002

Everman David B, Bartels Cynthia F, Yang Yue, Yanamandra Niranjan, Goodman Frances R, Mendoza-Londono J Roberto, Savarirayan Ravi, White Susan M, Graham John M, Gale Robert Peter, Svarch Eva, Newman William G, Kleckers Albert R, Francomano Clair A, Govindaiah Vinukonda, Singh Lalji, Morrison Stuart, Thomas J Terrig, Warman Matthew L

Abstract excerpt

Growth/differentiation factor-5 (GDF5), also known as cartilage-derived morphogenetic protein-1 (CDMP-1), is a secreted signaling molecule that participates in skeletal morphogenesis. Heterozygous mutations in GDF5, which maps to human chromosome 20, occur in individuals with autosomal dominant brachydactyly type C (BDC). Here we show that BDC is locus homogeneous by reporting a GDF5 frameshift mutation...

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Source

Identifiers

PMID: 12357473
DOI: 10.1002/ajmg.10777

Genes

GDF5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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