Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene

Prenat Diagn. 2006 Apr;26(4):394. doi: 10.1002/pd.1428.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Female
  • Gestational Age
  • Humans
  • Karyotyping
  • Mutation*
  • Nuchal Translucency Measurement
  • Osteogenesis Imperfecta / diagnostic imaging*
  • Osteogenesis Imperfecta / genetics*
  • Pregnancy
  • Ultrasonography, Prenatal*

Substances

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