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References

These sources were used to develop the Genetics Home Reference gene summary on the GDF6 gene.

Entrez Gene
OMIM: GROWTH/DIFFERENTIATION FACTOR 6
Portnoy ME, McDermott KJ, Antonellis A, Margulies EH, Prasad AB; NISC Comparative Sequencing Program, Kingsley DM, Green ED, Mortlock DP. Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer. Genomics. 2005 Sep;86(3):295-305. PubMed citation
Pregizer S, Mortlock DP. Control of BMP gene expression by long-range regulatory elements. Cytokine Growth Factor Rev. 2009 Oct-Dec;20(5-6):509-15. doi: 10.1016/j.cytogfr.2009.10.011. Epub 2009 Nov 8. Review. PubMed citation
Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741. PubMed citation

Reviewed: December 2011

Published: May 13, 2013