Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum

Br J Dermatol. 2016 Oct;175(4):810-4. doi: 10.1111/bjd.14618. Epub 2016 Jul 27.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Class I Phosphatidylinositol 3-Kinases
  • Extremities
  • Heterozygote
  • Humans
  • Lipoma / congenital
  • Lipoma / genetics*
  • Mosaicism
  • Musculoskeletal Abnormalities / genetics*
  • Mutation, Missense / genetics*
  • Nevus / congenital
  • Nevus / genetics*
  • Phosphatidylinositol 3-Kinases / genetics*
  • Skin Diseases, Vascular / congenital
  • Skin Diseases, Vascular / genetics
  • Vascular Malformations / genetics*

Substances

  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human

Supplementary concepts

  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi