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Article

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

Journal of human genetics - 1 Jan 2008

Yang Wei, Cao Lihua, Liu Wenli, Jiang Li, Sun Miao, Zhang Dai, Wang Shusen, Lo Wilson H Y, Luo Yang, Zhang Xue

Abstract excerpt

Growth/differentiation factor 5 (GDF5) is a secreted growth factor that plays a key regulatory role in embryonic skeletal and joint development. Mutations in the GDF5 gene can cause different types of skeletal dysplasia, including brachydactyly type C (BDC) and proximal symphalangism (SYM1). We report two novel mutations in the GDF5 gene in Chinese families with distinct limb malformations. In one family affected...

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Source

Identifiers

PMID: 18283415
DOI: 10.1007/s10038-008-0253-7

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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