PhenomeGene — Human Disease Gene Website SeriesGDF6

Publications

Tassabehji M et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat 2008;29:1017–1027. PMID: 18425797.

Markunas CA et al. Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.PLoS ONE. 2013;8:e61521. PMID: 23620759.

Terhal PA et al. Further delineation of the GDF6 related multiple synostoses syndrome. Am J Med Genet A 176: 2018;225-229. PMID: 29130651.

Asai-Coakwell M et al. GDF6, a novel locus for a spectrum of ocular developmental anomalies.Am J Hum Genet 2007;80:306-15. PMID: 17236135.

Asai-Coakwell M et al. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.Hum Mol Genet 2009;18: 1110–1121. PMID: 19129173.

Martens H et al. Rare heterozygous GDF6 variants in patients with renal anomalies.Eur J Hum Genet. 2020;28:1681-1693. PMID: 32737436.

Salazar VS et al. BMP signalling in skeletal development, disease and repair.Nat Rev Endo. 2016;12:203-221. PMID: 26893264

Harrison CA et al. Prodomains regulate the synthesis, extracellular localisation and activity of TGF-β superfamily ligands.Growth Factors. 2011;29:174–86. PMID: 21864080.