Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis

J Dermatol. 2015 Jul;42(7):752-3. doi: 10.1111/1346-8138.12889. Epub 2015 Apr 20.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Hair / abnormalities*
  • Hair Diseases / genetics*
  • Heterozygote
  • Humans
  • Hypotrichosis / congenital
  • Hypotrichosis / genetics*
  • Ichthyosis
  • Lipase / genetics*
  • Mutation, Missense

Substances

  • LIPC protein, human
  • Lipase

Supplementary concepts

  • Ichthyosis with hypotrichosis, autosomal recessive
  • Woolly Hair, Autosomal Recessive