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X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. Hahn KA, et al. Among authors: lubs ha. Am J Hum Genet. 2002 May;70(5):1349-56. doi: 10.1086/340092. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898126 Free PMC article.
X-linked intellectual disability update 2017.
Neri G, Schwartz CE, Lubs HA, Stevenson RE. Neri G, et al. Among authors: lubs ha. Am J Med Genet A. 2018 Jun;176(6):1375-1388. doi: 10.1002/ajmg.a.38710. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696803 Free PMC article. Review.
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: lubs ha. 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
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: lubs ha. 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.
143 results