Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene

J Intern Med. 2018 Jun;283(6):604-606. doi: 10.1111/joim.12709. Epub 2017 Nov 28.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cholestanetriol 26-Monooxygenase / genetics*
  • Female
  • Humans
  • Mutation / genetics*
  • Pedigree
  • Xanthomatosis, Cerebrotendinous / genetics*

Substances

  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase