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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Waardenburg syndrome type 1


Other Names for this Disease
  • Waardenburg's syndrome type 1
  • WS1
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  • I have Waardenburg syndrome type 1. I have read that this condition is caused by mutations in the PAX3 gene on chromosome 2q35. What causes these mutations? Is it due to consanguinity? Click here for answer