Author:
Mignot Cyril,Héron Delphine,Bursztyn Joseph,Momtchilova Marta,Mayer Michèle,Whalen Sandra,Legall Anne,Billette de Villemeur Thierry,Burglen Lydie
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference8 articles.
1. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27;Christianson;J Med Genet,1999
2. Natural history of Christianson syndrome;Schroer;Am J Med Genet A,2010
3. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition;Garbern;Brain,2010
4. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome;Gilfillan;Am J Hum Genet,2008
5. A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome;Takahashi;Am J Med Genet B Neuropsychiatr Genet,2011
Cited by
31 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