A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

J Med Genet. 2003 Nov;40(11):845-8. doi: 10.1136/jmg.40.11.845.
No abstract available

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / abnormalities
  • Codon, Nonsense / genetics*
  • Eye Abnormalities / genetics*
  • Female
  • Humans
  • Infant
  • Male
  • Membrane Proteins
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Phenotype
  • Proteins / genetics*
  • Syndrome

Substances

  • Codon, Nonsense
  • FKTN protein, human
  • Membrane Proteins
  • Proteins