A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation

J Med Genet. 2002 Feb;39(2):128-32. doi: 10.1136/jmg.39.2.128.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics
  • Female
  • Femur / abnormalities*
  • Femur / diagnostic imaging
  • Humans
  • Osteogenesis Imperfecta / diagnostic imaging
  • Osteogenesis Imperfecta / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Ultrasonography