SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility

J Invest Dermatol. 2018 Jun;138(6):1428-1431. doi: 10.1016/j.jid.2018.01.015. Epub 2018 Feb 1.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / pathology
  • Cells, Cultured
  • DNA Helicases / genetics*
  • Female
  • Fibroblasts
  • Genetic Predisposition to Disease*
  • Haploinsufficiency
  • Humans
  • Isoenzymes / genetics
  • Keratinocytes
  • Keratosis / genetics*
  • Keratosis / pathology
  • Male
  • Middle Aged
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Primary Cell Culture
  • Scleroderma, Localized / genetics*
  • Scleroderma, Localized / pathology
  • Skin / cytology
  • Skin / pathology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Whole Genome Sequencing
  • Young Adult

Substances

  • Isoenzymes
  • SMARCAD1 protein, human
  • DNA Helicases

Supplementary concepts

  • Sclerotylosis