Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

Acta Derm Venereol. 2017 Jan 4;97(1):108-109. doi: 10.2340/00015555-2459.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Female
  • Haplotypes
  • Humans
  • Hyaline Fibromatosis Syndrome / genetics*
  • Infant
  • Infant, Newborn
  • Male
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Receptors, Peptide / genetics*
  • Syndrome

Substances

  • ANTXR2 protein, human
  • Receptors, Peptide