Waardenburg Syndrome

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  Subject Areas on Research

  • A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 
  • A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. 
  • Dislocating medial triceps and ulnar neuropathy in three generations of one family. 
  • The eyes have it: Waardenburg's syndrome.