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Page 1
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Rock MJ, et al. Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29. Nat Genet. 2008. PMID: 18587396 Free PMC article.
Mutations in SERPINF1 cause osteogenesis imperfecta type VI.
Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. Homan EP, et al. J Bone Miner Res. 2011 Dec;26(12):2798-803. doi: 10.1002/jbmr.487. J Bone Miner Res. 2011. PMID: 21826736 Free PMC article.
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. Furuichi T, et al. J Med Genet. 2009 Aug;46(8):562-8. doi: 10.1136/jmg.2008.065201. Epub 2009 Jun 8. J Med Genet. 2009. PMID: 19508970 Free PMC article.
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.
Reinstein E, Pariani M, Lachman RS, Nemec S, Rimoin DL. Reinstein E, et al. Am J Med Genet A. 2012 Apr;158A(4):938-41. doi: 10.1002/ajmg.a.35261. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419391 Free PMC article. No abstract available.