A novel COL1A1 mutation causing a variant of osteogenesis imperfecta

Clin Dysmorphol. 2017 Oct;26(4):243-246. doi: 10.1097/MCD.0000000000000201.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Osteogenesis Imperfecta / diagnostic imaging
  • Osteogenesis Imperfecta / genetics*

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain