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Results 1 - 8 of 8 for Waardenburg syndrome type 3
  1. Waardenburg syndrome 
    ... Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Waardenburg-Shah syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  2. SOX10 gene 
    ... report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. Hum Genet. 2012 Mar;131(3):491-503. doi: 10.1007/s00439-011-1098- ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  3. EDN3 gene 
    ... Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). This type of ... endothelin 3 protein. Because active endothelin 3 is necessary for ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  4. SNAI2 gene 
    ... loss of pigmentation that are characteristic features of Waardenburg syndrome type II. More About This Health Condition ... SLUG gene organization, expression, and chromosome map location on 8q. Genomics. 1998 Aug 1;51(3):468-71. doi: 10.1006/geno.1998.5367. ...
    https://medlineplus.gov/genetics/gene/snai2 - Genetics
  5. PAX3 gene 
    ... passages and sinuses called biphenotypic sinonasal sarcoma. This type of cancer ... paired box gene 3 (Waardenburg syndrome 1) paired box homeotic gene 3 paired domain ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  6. EDNRB gene 
    ... eyes and causes the hearing loss characteristic of Waardenburg syndrome. More About This Health Condition ... receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet. 1996 Mar;5(3):355-7. doi: 10.1093/hmg/5.3. ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  7. Hirschsprung disease 
    ... occur in combination with other conditions, such as Waardenburg syndrome, type IV; ... called endothelin 3, one of the endothelins that interacts with endothelin ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  8. KIT gene 
    ... patients with mastocytosis and correlates with the WHO type of the disease. Allergy. 2014 ... syndrome, and related disorders of melanocyte development. Semin Cutan ...
    https://medlineplus.gov/genetics/gene/kit - Genetics