Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum

Am J Med Genet A. 2014 Mar;164A(3):837-40. doi: 10.1002/ajmg.a.36343. Epub 2013 Dec 19.
No abstract available

Publication types

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

MeSH terms

  • Aborted Fetus
  • Carrier Proteins / genetics*
  • Child, Preschool
  • Comparative Genomic Hybridization
  • DNA Mutational Analysis
  • Facies
  • Family
  • Female
  • Fraser Syndrome / diagnosis*
  • Fraser Syndrome / genetics*
  • Genetic Association Studies
  • Genotype
  • Humans
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Phenotype*

Substances

  • Carrier Proteins
  • GRIP1 protein, human
  • Nerve Tissue Proteins