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.