Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 7 of 7 for Waardenburg syndrome type 1
  1. 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
  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/s00439-011-1098-2. Epub 2011 Oct 1. Citation on PubMed
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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