Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population

Eur J Neurol. 2013 Apr;20(4):e60. doi: 10.1111/ene.12056.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Ataxia / genetics*
  • Cataract / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Hearing Loss / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Italy
  • Male
  • Monoacylglycerol Lipases / genetics*
  • Mutation*
  • Polyneuropathies / genetics*
  • Retinitis Pigmentosa / genetics*
  • Syndrome
  • Young Adult

Substances

  • ABHD12 protein, human
  • Monoacylglycerol Lipases