SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

J Med Genet. 2005 Feb;42(2):159-65. doi: 10.1136/jmg.2004.024208.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Genotype
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Sulfate Transporters
  • Syndrome
  • Vestibular Aqueduct / abnormalities*

Substances

  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters

Associated data

  • OMIM/600791
  • OMIM/603545