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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M. Tarpey PS, et al. Among authors: schwartz ce. Am J Hum Genet. 2007 Feb;80(2):345-52. doi: 10.1086/511134. Epub 2007 Jan 4. Am J Hum Genet. 2007. PMID: 17236139 Free PMC article.
Allan-Herndon syndrome. I. Clinical studies.
Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. Stevenson RE, et al. Among authors: schwartz ce. Am J Hum Genet. 1990 Sep;47(3):446-53. Am J Hum Genet. 1990. PMID: 2393019 Free PMC article.
X-linked mental retardation: the early era from 1943 to 1969.
Stevenson RE, Schwartz CE, Arena JF, Lubs HA. Stevenson RE, et al. Among authors: schwartz ce. Am J Med Genet. 1994 Jul 15;51(4):538-41. doi: 10.1002/ajmg.1320510450. Am J Med Genet. 1994. PMID: 7943037 No abstract available.
574 results