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Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, Varian J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton DF, Wooster R, Bobrow M, Schwartz CE, Gecz J, Stratton MR, Futreal PA. Raymond FL, et al. Among authors: easton df. Am J Hum Genet. 2007 May;80(5):982-7. doi: 10.1086/513609. Epub 2007 Mar 20. Am J Hum Genet. 2007. PMID: 17436253 Free PMC article.
Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.
Steichen-Gersdorf E, Gallion HH, Ford D, Girodet C, Easton DF, DiCioccio RA, Evans G, Ponder MA, Pye C, Mazoyer S, et al. Steichen-Gersdorf E, et al. Among authors: easton df. Am J Hum Genet. 1994 Nov;55(5):870-5. Am J Hum Genet. 1994. PMID: 7977348 Free PMC article.
875 results