Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

Acta Derm Venereol. 2020 Jan 30;100(1):adv00041. doi: 10.2340/00015555-3313.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 2 / genetics
  • Epidermolysis Bullosa, Junctional / diagnosis
  • Epidermolysis Bullosa, Junctional / genetics*
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Infant, Newborn
  • Integrin alpha6 / genetics*
  • Mutation*
  • Phenotype
  • Uniparental Disomy / diagnosis
  • Uniparental Disomy / genetics*

Substances

  • ITGA6 protein, human
  • Integrin alpha6

Supplementary concepts

  • Uniparental disomy of chromosome 2