Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5

Br J Dermatol. 2008 Jun;158(6):1378-80. doi: 10.1111/j.1365-2133.2008.08544.x. Epub 2008 Apr 10.
No abstract available

Publication types

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

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • Child
  • Consanguinity
  • Diagnosis, Differential
  • Hepatomegaly / diagnosis
  • Humans
  • Ichthyosis / genetics*
  • Lipase / genetics
  • Lipase / metabolism*
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / genetics*
  • Male
  • Muscular Diseases / genetics*
  • Mutation / genetics*
  • Phenotype
  • Syndrome

Substances

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human
  • Lipase