Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1

Clin Dysmorphol. 2017 Oct;26(4):228-230. doi: 10.1097/MCD.0000000000000186.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17 / genetics*
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Facies
  • Female
  • Humans
  • Infant
  • Osteogenesis Imperfecta / genetics*

Substances

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