Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

Prenat Diagn. 2009 Feb;29(2):172-4. doi: 10.1002/pd.2164.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Contractile Proteins / genetics*
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • DNA / chemistry
  • DNA / genetics
  • Female
  • Fetus
  • Filamins
  • Humans
  • Infant, Newborn
  • Microfilament Proteins / genetics*
  • Musculoskeletal Abnormalities / diagnostic imaging
  • Musculoskeletal Abnormalities / genetics*
  • Musculoskeletal Abnormalities / pathology
  • Mutation, Missense
  • Polymerase Chain Reaction
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal
  • Young Adult

Substances

  • Contractile Proteins
  • Filamins
  • Microfilament Proteins
  • DNA