A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis

J Invest Dermatol. 2005 Nov;125(5):1077-9. doi: 10.1111/j.0022-202X.2005.23903.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Sequence
  • Cadherins / chemistry
  • Cadherins / genetics
  • Child, Preschool
  • Desmogleins / chemistry
  • Desmogleins / genetics*
  • Female
  • Humans
  • Hypotrichosis / genetics*
  • Molecular Sequence Data
  • Mutation, Missense
  • Pedigree
  • Protein Conformation

Substances

  • Cadherins
  • DSG4 protein, human
  • Desmogleins