Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology

J Invest Dermatol. 2013 Jul;133(7):1907-10. doi: 10.1038/jid.2013.45. Epub 2013 Jan 28.
No abstract available

Publication types

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

MeSH terms

  • Carcinoma / ethnology
  • Carcinoma / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 9 / genetics*
  • Genetic Variation / genetics*
  • Germ-Line Mutation / genetics
  • Humans
  • Keratoacanthoma / ethnology
  • Keratoacanthoma / genetics*
  • Patched Receptors
  • Polymorphism, Single Nucleotide / genetics
  • Protein-Serine-Threonine Kinases / genetics*
  • Receptor, Transforming Growth Factor-beta Type I
  • Receptors, Cell Surface / genetics
  • Receptors, Transforming Growth Factor beta / genetics*
  • Scotland
  • Skin Diseases / ethnology
  • Skin Diseases / genetics*

Substances

  • Patched Receptors
  • Receptors, Cell Surface
  • Receptors, Transforming Growth Factor beta
  • Protein-Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type I
  • TGFBR1 protein, human

Supplementary concepts

  • Keratoacanthoma familial