A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family

Br J Dermatol. 2009 Sep;161(3):688-90. doi: 10.1111/j.1365-2133.2009.09275.x. Epub 2009 Jun 9.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People / genetics
  • Base Sequence
  • Child
  • Child, Preschool
  • Exons / genetics
  • Extracellular Matrix Proteins / genetics*
  • Genetic Predisposition to Disease
  • Homozygote*
  • Humans
  • Lipoid Proteinosis of Urbach and Wiethe / genetics*
  • Molecular Sequence Data
  • Mutagenesis, Insertional / genetics*
  • Pakistan

Substances

  • ECM1 protein, human
  • Extracellular Matrix Proteins