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Waardenburg Syndrome Type 1

Known as: WS1, Waardenburg's Syndrome Type 1, WAARDENBURG SYNDROME, TYPE 1 
A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner… 
National Institutes of Health

Papers overview

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Review
2012
Review
2012
We report the discovery of two new Galactic candidate luminous blue variable (cLBV) stars via detection of circular shells… 
2008
2008
Assessments of temporal bone dissection performance among otolaryngology residents have not been adequately developed. At the… 
Review
2006
Review
2006
Abstract Waardenburg syndrome presents with dystopia canthorum, pigmentary abnormalities of hair, iris and skin (often a white… 
2005
2005
The combination of Web Services and grid-computing technologies is curre ntly of a major scientific revolution. It combines the… 
1996
1996
Type 1 Waardenburg syndrome (WS1) is an autosomal dominant disorder characterized by dystopia canthorum, sensorineural deafness… 
Highly Cited
1994
Highly Cited
1994
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and… 
1991
1991
Waardenburg syndrome type I (WS1; MIM 19350) is caused by a pleiotropic, autosomal dominant mutation with variable penetrance and… 
Highly Cited
1989
Highly Cited
1989
We report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20 month-old boy has… 
1986
1986
We examined the resistance of Neisseria gonorrhoeae to proteins prepared from the granules of human polymorphonuclear neutrophils…