A novel homozygous frameshift mutation in DSG1 gene in an Indian consanguineous family with severe dermatitis, multiple allergies and metabolic wasting syndrome

Indian J Dermatol Venereol Leprol. 2021 May-Jun;87(3):410-416. doi: 10.25259/IJDVL_374_19.
No abstract available

Publication types

  • Letter

MeSH terms

  • Child, Preschool
  • Consanguinity
  • Dermatitis / complications
  • Dermatitis / genetics*
  • Dermatitis / pathology
  • Desmoglein 1 / genetics*
  • Frameshift Mutation / genetics*
  • Homozygote
  • Humans
  • Hypersensitivity / complications
  • Hypersensitivity / genetics*
  • Hypersensitivity / pathology
  • India
  • Male
  • Wasting Syndrome / complications
  • Wasting Syndrome / genetics*
  • Wasting Syndrome / pathology

Substances

  • DSG1 protein, human
  • Desmoglein 1