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Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, 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, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL. Field M, et al. Among authors: stevenson r. Am J Hum Genet. 2007 Aug;81(2):367-74. doi: 10.1086/520677. Epub 2007 Jun 26. Am J Hum Genet. 2007. PMID: 17668385 Free PMC article.
MRX8: an X-linked mental retardation condition with linkage to Xq21.
Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):467-74. doi: 10.1002/ajmg.1320430170. Am J Med Genet. 1992. PMID: 1605227
Allan-Herndon syndrome. I. Clinical studies.
Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. Stevenson RE, et al. Am J Hum Genet. 1990 Sep;47(3):446-53. Am J Hum Genet. 1990. PMID: 2393019 Free PMC article.
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Hum Genet. 1990 Sep;47(3):454-8. Am J Hum Genet. 1990. PMID: 2393020 Free PMC article.
1,588 results