Complex Neurological Phenotype in Female Carriers of NHE6 Mutations
-
Published:2019
Issue:2
Volume:5
Page:98-108
-
ISSN:2296-9209
-
Container-title:Molecular Neuropsychiatry
-
language:en
-
Short-container-title:Mol Neuropsychiatry
Author:
Pescosolido Matthew F., Kavanaugh Brian C., Pochet Nathalie, Schmidt Michael, Jerskey Beth A., Rogg Jeffrey M., De Jager Philip L., Young-Pearse Tracy L., Liu Judy S., Morrow Eric M.ORCID
Reference30 articles.
1. Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet. 2008 Apr;82(4):1003–10. 2. Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, et al. Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. Ann Neurol. 2014 Oct;76(4):581–93. 3. Christianson AL, Stevenson RE, van der Meyden CH, Pelser J, Theron FW, van Rensburg PL, et al. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet. 1999 Oct;36(10):759–66. 4. Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, et al. Natural history of Christianson syndrome. Am J Med Genet A. 2010 Nov;152A(11):2775–83. 5. Mignot C, Héron D, Bursztyn J, Momtchilova M, Mayer M, Whalen S, et al. Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. Brain Dev. 2013 Feb;35(2):172–6.
Cited by
8 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
|
|