Mutational spectrum of NSDHL in CHILD syndrome

J Med Genet. 2005 Feb;42(2):e17. doi: 10.1136/jmg.2004.024448.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / genetics*
  • Adolescent
  • Amino Acid Sequence
  • DNA Mutational Analysis
  • Female
  • Humans
  • Ichthyosis / diagnosis
  • Ichthyosis / genetics*
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Mutation, Missense
  • Nevus / diagnosis
  • Nevus / genetics*
  • Point Mutation
  • Polymorphism, Single Nucleotide
  • Sequence Alignment
  • Sequence Deletion

Substances

  • 3-Hydroxysteroid Dehydrogenases
  • Nsdhl protein, human