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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: christianson a. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+ …
Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microceph …
Down syndrome in sub-Saharan Africa.
Christianson AL. Christianson AL. J Med Genet. 1996 Feb;33(2):89-92. doi: 10.1136/jmg.33.2.89. J Med Genet. 1996. PMID: 8929941 Free PMC article. Review. No abstract available.
Atypical acrofacial dysostosis syndrome.
Christianson AL, Kruger H, Dini L. Christianson AL, et al. Am J Med Genet. 1994 May 15;51(1):32-4. doi: 10.1002/ajmg.1320510108. Am J Med Genet. 1994. PMID: 8030666
172 results