Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis

Acta Derm Venereol. 2017 Jul 6;97(7):858-859. doi: 10.2340/00015555-2671.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • DNA Mutational Analysis
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Heredity
  • Heterozygote*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Myofibromatosis / congenital*
  • Myofibromatosis / genetics
  • Myofibromatosis / pathology
  • Pedigree
  • Phenotype
  • Receptor, Platelet-Derived Growth Factor beta / genetics*

Substances

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

Supplementary concepts

  • Fibromatosis, Congenital Generalized