Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival

Eur J Dermatol. 2017 Jun 1;27(3):328-329. doi: 10.1684/ejd.2017.3007.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosomes, Human, Pair 14 / genetics
  • Fatal Outcome
  • Female
  • Humans
  • Hyalin
  • Hyaline Fibromatosis Syndrome / diagnosis*
  • Hyaline Fibromatosis Syndrome / genetics
  • Infant
  • Mutation
  • Receptors, Peptide / genetics

Substances

  • ANTXR2 protein, human
  • Receptors, Peptide