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Article

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.

Human molecular genetics - 15 Jan 2010

Ye Ming, Berry-Wynne Karyn M, Asai-Coakwell Mika, Sundaresan Periasamy, Footz Tim, French Curtis R, Abitbol Marc, Fleisch Valerie C, Corbett Nathan, Allison W Ted, Drummond Garry, Walter Michael A, Underhill T Michael, Waskiewicz Andrew J, Lehmann Ordan J

Abstract excerpt

Ocular mal-development results in heterogeneous and frequently visually disabling phenotypes that include coloboma and microphthalmia. Due to the contribution of bone morphogenetic proteins to such processes, the function of the paralogue Growth Differentiation Factor 3 was investigated. Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies including one...

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Source

Identifiers

PMID: 19864492
DOI: 10.1093/hmg/ddp496

Genes

GDF3
GDF6

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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