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Waardenburg syndrome type 1
- Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, ... Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent needs to ...
- ... the condition. Waardenburg's syndrome Genetic Testing Registry: Waardenburg syndrome type 1 Genetic Testing Registry: Waardenburg syndrome type 2A Genetic ...
- Hearing Disorders and Deafness (National Library of Medicine)It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They ...
- Skin Pigmentation Disorders (National Library of Medicine)Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the ...
- NIDCD Glossary (National Institute on Deafness and Other Communication Disorders)Ear Infections/Reference Desk ... Ear Infections ... Dizziness and Vertigo/Reference Desk ... Dizziness and Vertigo ... Hearing Disorders and Deafness/Reference Desk ... Hearing ...
- ... Injury Mild inflammation affecting only one eye Neurofibromatosis Waardenburg syndrome
- ... 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. ...
- ... 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
- ... occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson ... Isolated Hirschsprung disease can ...
- ... eyes and causes the hearing loss characteristic of Waardenburg syndrome. More About This Health Condition ... PubMed ENDOTHELIN RECEPTOR, TYPE ...