| 1 | GDF6, KFS1
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| Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes.
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| Chacón-Camacho O, Camarillo-Blancarte L, Pelaez-González H, Mendiola J, Zenteno JC.
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| Eur J Med Genet 55(6-7):414-7. doi: 10.1016/j.ejmg.2012.03.007. Epub 2012 Mar 28.
2012
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| 2 | GDF3, GDF6, KFS1, KFS3
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| Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
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| Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ.
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| Hum Mol Genet 19(2):287-98. Epub 2009 Oct 28.PMID: 19864492 2010
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| 3 | GDF6, KFS1
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| Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
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| 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.
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| Hum Mutat 29(8):1017-27.
2008
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| 4 | KFS1, SGM1
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| Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).
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| Clarke RA, et al.
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| Am J Hum Genet 57 : 1364-1370. 1995
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| 5 | KFS1
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| Human segmentation syndrome.
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| Clarke RA, et al.
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| Cytogenet Cell Genet 64 : 142. 1993
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