Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal

Clin Genet. 2008 Jul;74(1):93-5. doi: 10.1111/j.1399-0004.2008.01010.x. Epub 2008 May 28.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Melanins / metabolism
  • Microphthalmia-Associated Transcription Factor / genetics*
  • Mutation
  • Phenotype
  • Tietze's Syndrome / genetics*

Substances

  • MITF protein, human
  • Melanins
  • Microphthalmia-Associated Transcription Factor