Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families

Clin Genet. 2013 Sep;84(3):294-6. doi: 10.1111/cge.12047. Epub 2012 Nov 23.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Consanguinity
  • Female
  • GPI-Linked Proteins / genetics*
  • Genes, Recessive*
  • Genetic Linkage
  • Genotype
  • Hearing Loss / diagnosis*
  • Hearing Loss / genetics*
  • Humans
  • Male
  • Mutation*
  • Pakistan
  • Pedigree

Substances

  • GPI-Linked Proteins
  • OTOA protein, human