Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation

Am J Med Genet A. 2012 Nov;158A(11):2969-71. doi: 10.1002/ajmg.a.35602. Epub 2012 Sep 17.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Female
  • Humans
  • Mosaicism*
  • Mutation*
  • Osteogenesis Imperfecta / diagnosis
  • Osteogenesis Imperfecta / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Recurrence

Substances

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