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GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D. Dawson K, et al. Am J Hum Genet. 2006 Apr;78(4):708-12. doi: 10.1086/503204. Epub 2006 Feb 24. Am J Hum Genet. 2006. PMID: 16532400 Free PMC article.
Common variants in the GDF5-UQCC region are associated with variation in human height.
Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM, Scott LJ, Dei M, Lai S, Albai G, Crisponi L, Naitza S, Doheny KF, Pugh EW, Ben-Shlomo Y, Ebrahim S, Lawlor DA, Bergman RN, Watanabe RM, Uda M, Tuomilehto J, Coresh J, Hirschhorn JN, Shuldiner AR, Schlessinger D, Collins FS, Davey Smith G, Boerwinkle E, Cao A, Boehnke M, Abecasis GR, Mohlke KL. Sanna S, et al. Nat Genet. 2008 Feb;40(2):198-203. doi: 10.1038/ng.74. Epub 2008 Jan 13. Nat Genet. 2008. PMID: 18193045 Free PMC article.