Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Acta Derm Venereol. 2019 Dec 1;99(13):1309-1310. doi: 10.2340/00015555-3317.
No abstract available

Keywords: intermediate filaments; plectin; skin blistering; epidermolysis bullosa.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Epidermolysis Bullosa Simplex / complications
  • Epidermolysis Bullosa Simplex / diagnosis
  • Epidermolysis Bullosa Simplex / genetics*
  • Follow-Up Studies
  • Gastric Outlet Obstruction / complications
  • Gastric Outlet Obstruction / diagnostic imaging
  • Gastric Outlet Obstruction / genetics*
  • Genetic Predisposition to Disease*
  • Humans
  • Infant, Newborn
  • Male
  • Monitoring, Physiologic
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Mutation
  • Plectin / genetics*
  • Pylorus / abnormalities*
  • Pylorus / diagnostic imaging
  • Rare Diseases
  • Urologic Diseases*

Substances

  • PLEC protein, human
  • Plectin

Supplementary concepts

  • Pyloric Atresia