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Results 1 - 10 of 11 for Waardenburg syndrome type 2
  1. Waardenburg syndrome 
    ... type 4C Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Waardenburg-Shah syndrome National Organization for ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  2. SOX10 gene 
    ... V. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet. 2007 Dec; ... 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
  3. SNAI2 gene 
    ... About This Health Condition In some cases of Waardenburg syndrome type II, both copies of the SNAI2 gene are missing. With no copies of the gene, the snail 2 protein is absent. Lack of snail 2 may ...
    https://medlineplus.gov/genetics/gene/snai2 - Genetics
  4. EDNRB gene 
    ... a feature of another condition called Waardenburg syndrome type IV (described below), EDNRB gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. People with a variant in one of the two copies of the EDNRB gene tend to develop ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  5. EDN3 gene 
    ... disease is a feature of another disorder called Waardenburg syndrome type IV (described below), EDN3 gene variants can also ... EDN3 gene have been identified in people with Waardenburg syndrome type IV (also known as Waardenburg-Hirschsprung disease or ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  6. PAX3 gene 
    ... and eyes. Specifically, PAX3 gene variants can cause Waardenburg syndrome types I and III.Some of these variants change ... of the arms and hands in people with Waardenburg syndrome type III. More About This Health Condition Rearrangements of ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  7. Hirschsprung disease 
    ... occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  8. MITF gene 
    ... MITF gene have been identified in people with Waardenburg syndrome type II, a disorder that can cause hearing loss ... version of the protein. Researchers believe that both types of variant disrupt the ... homolog of mouse ...
    https://medlineplus.gov/genetics/gene/mitf - Genetics
  9. Piebaldism 
    ... and give rise to many tissues and cell types, including melanocytes. The snail 2 protein probably plays a role in the formation ... piebaldism. Am J Hum Genet. 1992 Feb;50(2):261-9. Citation on PubMed or Free article on ... syndrome, and related disorders of melanocyte development. Semin Cutan ...
    https://medlineplus.gov/genetics/condition/piebaldism - Genetics
  10. KIT gene 
    ... piebaldism. Am J Hum Genet. 1992 Feb;50(2):261-9. Citation on PubMed or Free article on ... syndrome, and related disorders of melanocyte development. Semin Cutan ...
    https://medlineplus.gov/genetics/gene/kit - Genetics
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