Fraser syndrome due to homozygosity for a splice site mutation of FREM2

Am J Med Genet A. 2008 Feb 15;146A(4):529-31. doi: 10.1002/ajmg.a.32091.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Base Sequence
  • Consanguinity
  • DNA Mutational Analysis
  • Embryo Loss / genetics*
  • Extracellular Matrix Proteins / genetics*
  • Eye Abnormalities / complications
  • Eye Abnormalities / genetics
  • Female
  • Homozygote*
  • Humans
  • Male
  • Mutation
  • Pregnancy
  • RNA Splice Sites / genetics*
  • Syndactyly / complications
  • Syndactyly / genetics
  • Syndrome

Substances

  • Extracellular Matrix Proteins
  • FREM2 protein, human
  • RNA Splice Sites