Mutation in the COCH gene is associated with superior semicircular canal dehiscence

Am J Med Genet A. 2009 Feb;149A(2):280-5. doi: 10.1002/ajmg.a.32618.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Age of Onset
  • Audiometry
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins
  • Family Health
  • Hearing Loss / epidemiology
  • Hearing Loss / genetics*
  • Humans
  • Mutation*
  • Pedigree
  • Proteins / genetics*
  • Semicircular Canals / pathology*

Substances

  • COCH protein, human
  • Extracellular Matrix Proteins
  • Proteins