Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family

J Invest Dermatol. 2007 Jul;127(7):1779-82. doi: 10.1038/sj.jid.5700791. Epub 2007 Mar 29.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Asian People / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • Desmogleins / genetics*
  • Female
  • Frameshift Mutation / genetics*
  • Genes, Recessive / genetics*
  • Humans
  • Hypotrichosis / diagnosis
  • Hypotrichosis / genetics*
  • Male
  • Pakistan
  • Pedigree
  • Phenotype*

Substances

  • DSG4 protein, human
  • Desmogleins