Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis

J Dermatol. 2015 Aug;42(8):822-4. doi: 10.1111/1346-8138.12939. Epub 2015 Jun 5.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Codon, Nonsense
  • Hair / abnormalities*
  • Hair Diseases / genetics*
  • Humans
  • Hypotrichosis / genetics*
  • Lipase / genetics*
  • Male

Substances

  • Codon, Nonsense
  • LIPC protein, human
  • Lipase

Supplementary concepts

  • Woolly Hair, Autosomal Recessive