Absence of COCH gene mutations in patients with superior semicircular canal dehiscence

Am J Med Genet A. 2012 Jan;158A(1):251-3. doi: 10.1002/ajmg.a.34377. Epub 2011 Dec 2.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • Ear Diseases / diagnosis*
  • Ear Diseases / genetics*
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Gene Deletion
  • Genetic Testing
  • Hearing Loss / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins / genetics
  • Middle Aged
  • POU Domain Factors / genetics
  • Semicircular Canals / abnormalities*
  • Sulfate Transporters

Substances

  • COCH protein, human
  • Extracellular Matrix Proteins
  • Membrane Transport Proteins
  • POU Domain Factors
  • POU3F4 protein, human
  • SLC26A4 protein, human
  • Sulfate Transporters