Novel SLC9A6 mutations in two families with Christianson syndrome

Clin Genet. 2013 Jun;83(6):596-7. doi: 10.1111/j.1399-0004.2012.01948.x. Epub 2012 Aug 30.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Ataxia / pathology
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / pathology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Intellectual Disability / pathology
  • Male
  • Microcephaly / pathology
  • Mutation*
  • Pedigree
  • Seizures / pathology
  • Sex Factors
  • Sodium-Hydrogen Exchangers / genetics*
  • Syndrome

Substances

  • SLC9A6 protein, human
  • Sodium-Hydrogen Exchangers