[Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome]

Med Clin (Barc). 2014 Mar 4;142(5):219-25. doi: 10.1016/j.medcli.2013.05.025. Epub 2013 Jul 25.
[Article in Spanish]
No abstract available

Publication types

  • Practice Guideline

MeSH terms

  • Ataxia / diagnosis*
  • Ataxia / genetics
  • Ataxia / therapy
  • Female
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / therapy
  • Genetic Markers
  • Genetic Testing
  • Humans
  • Male
  • Mutation
  • Primary Ovarian Insufficiency / diagnosis*
  • Primary Ovarian Insufficiency / genetics
  • Primary Ovarian Insufficiency / therapy
  • Syndrome
  • Tremor / diagnosis*
  • Tremor / genetics
  • Tremor / therapy

Substances

  • FMR1 protein, human
  • Genetic Markers
  • Fragile X Mental Retardation Protein