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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

Related topics

Related topics

11 relations
Autosomal dominant inheritanceBlepharophimosisClass III malocclusionCleft palate with cleft lip

Broader (1)

Waardenburg Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Discovery of two new Galactic candidate luminous blue variables with WISE
We report the discovery of two new Galactic candidate luminous blue variable (cLBV) stars via detection of circular shells… 
2008
2008
Reliability of Surgical Skills Scores in Otolaryngology Residents
Assessments of temporal bone dissection performance among otolaryngology residents have not been adequately developed. At the… 
Review
2006
Review
2006
Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review
Abstract Waardenburg syndrome presents with dystopia canthorum, pigmentary abnormalities of hair, iris and skin (often a white… 
2005
2005
A General Framework for Web Services and Grid-Based Technologies for Online Laboratories
The combination of Web Services and grid-computing technologies is curre ntly of a major scientific revolution. It combines the… 
2003
2003
Lipid peroxidation-derived cytotoxic aldehyde, 4-hydroxy-2-nonenal in smoked pork.
1996
1996
Genotype‐Phenotype Correlations in Type 1 Waardenburg Syndrome
Type 1 Waardenburg syndrome (WS1) is an autosomal dominant disorder characterized by dystopia canthorum, sensorineural deafness… 
Highly Cited
1994
Highly Cited
1994
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and… 
1991
1991
Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.
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
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
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
A spontaneous mutant of Neisseria gonorrhoeae with decreased resistance to neutrophil granule proteins.
We examined the resistance of Neisseria gonorrhoeae to proteins prepared from the granules of human polymorphonuclear neutrophils… 
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