Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation

Acta Derm Venereol. 2018 Oct 10;98(9):912-913. doi: 10.2340/00015555-2993.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acro-Osteolysis / diagnosis
  • Acro-Osteolysis / genetics*
  • Adolescent
  • Biopsy
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Humans
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics*
  • Male
  • Mutation*
  • Phenotype
  • Progeria / diagnosis
  • Progeria / genetics*
  • Receptor, Platelet-Derived Growth Factor beta / genetics*

Substances

  • PDGFRB protein, human
  • Receptor, Platelet-Derived Growth Factor beta

Supplementary concepts

  • Penttinen-Aula syndrome