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Results 1 - 10 of 11 for Waardenburg syndrome type 1
  1. Waardenburg syndrome 
    ... the condition. Waardenburg's syndrome Genetic Testing Registry: Waardenburg syndrome type 1 Genetic Testing Registry: Waardenburg syndrome type 2A Genetic ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  2. PAX3 gene 
    ... and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 2003 Sep 15;122A(1):42-5. doi: 10.1002/ajmg.a.20260. ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  3. 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/s00439-011-1098-2. Epub 2011 Oct 1. Citation on PubMed
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  4. Hirschsprung disease 
    ... occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson ... Isolated Hirschsprung disease can ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  5. EDNRB gene 
    ... eyes and causes the hearing loss characteristic of Waardenburg syndrome. More About This Health Condition ... PubMed ENDOTHELIN RECEPTOR, TYPE ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  6. SNAI2 gene 
    ... loss of pigmentation that are characteristic features of Waardenburg syndrome type II. More About This Health Condition ... Jabs EW. Human SLUG gene organization, expression, and chromosome map location on 8q. Genomics. 1998 Aug 1;51(3):468-71. doi: 10.1006/geno. ...
    https://medlineplus.gov/genetics/gene/snai2 - Genetics
  7. EDN3 gene 
    ... formation of enteric nerves and melanocytes, these cell types do not form normally during embryonic development. Missing enteric ... ENDOTHELIN 3; EDN3 ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  8. MITF gene 
    ... version of the protein. Researchers believe that both types of variant disrupt the formation of dimers. Although some ... (Tietz syndrome). Clin Dysmorphol. 1998 Jan;7(1):17-20. Citation on PubMed Bondurand N, Pingault ...
    https://medlineplus.gov/genetics/gene/mitf - Genetics
  9. Piebaldism 
    ... be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic ... gene in human piebaldism. Am J Hum Genet. 1995 Jan;56(1):58-66. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/condition/piebaldism - Genetics
  10. 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
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