A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

Am J Med Genet A. 2007 Mar 15;143A(6):619-24. doi: 10.1002/ajmg.a.31627.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3 / genetics*
  • Gene Deletion
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Microphthalmia-Associated Transcription Factor / genetics*
  • Microsatellite Repeats
  • Pedigree
  • Pigmentation Disorders / classification
  • Pigmentation Disorders / pathology*
  • Waardenburg Syndrome / classification
  • Waardenburg Syndrome / pathology*

Substances

  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor