Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.55. Epub 2011 May 4.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia / diagnosis
  • Ataxia / genetics*
  • Female
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics*
  • Humans
  • Male
  • Primary Ovarian Insufficiency / diagnosis*
  • Sensitivity and Specificity
  • Syndrome
  • Tremor / diagnosis
  • Tremor / genetics*
  • Trinucleotide Repeats

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein