A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family

Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. doi: 10.1002/ajmg.a.32525.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Child
  • Frameshift Mutation*
  • Genes, Recessive*
  • Hearing Loss / congenital*
  • Hearing Loss / genetics*
  • Humans
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Morocco
  • Mutation
  • Mutation, Missense
  • Pedigree
  • Prospective Studies
  • Sequence Analysis, DNA
  • Vestibular Diseases / genetics
  • Young Adult

Substances

  • ESPN protein, human
  • Microfilament Proteins