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

AuthorsM T Johnson, S Morrison, S Heeger, S Mooney, P H Byers, N H Robin
JournalJournal of medical genetics (J Med Genet) Vol. 39 Issue 2 Pg. 128-32 (Feb 2002) ISSN: 1468-6244 [Electronic] England
PMID11836364 (Publication Type: Case Reports, Letter, Research Support, U.S. Gov't, P.H.S.)
Topics
  • Adult
  • Bone Diseases, Developmental (diagnostic imaging, genetics)
  • Female
  • Femur (abnormalities, diagnostic imaging)
  • Humans
  • Osteogenesis Imperfecta (diagnostic imaging, genetics)
  • Pregnancy
  • Prenatal Diagnosis
  • Ultrasonography

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