A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome

J Dermatol Sci. 2003 Oct;33(1):67-9. doi: 10.1016/s0923-1811(03)00151-8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases
  • Erythema / genetics*
  • Female
  • Humans
  • Hydroxysteroid Dehydrogenases / genetics*
  • Ichthyosis / genetics*
  • Infant
  • Keratosis / genetics*
  • Point Mutation*
  • Syndrome
  • Toes / abnormalities*

Substances

  • 3-Hydroxysteroid Dehydrogenases
  • Hydroxysteroid Dehydrogenases
  • Nsdhl protein, human