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Waardenburg Syndrome

Known as: syndrome waardenburg, Syndrome, Waardenburg's, Syndrome, Waardenburg 
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair… 
National Institutes of Health

Related topics

Related topics

26 relations

Narrower (11)

ABCD syndromeVan der Hoeve Halbertsma Waardenburg Gualdi SyndromeWAARDENBURG SYNDROME, TYPE 4AWAARDENBURG SYNDROME, TYPE IIA

Broader (2)

Hereditary DiseasesSyndrome
In BloodKlein's SyndromeMicrobiologicalPAX3 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations
BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and… 
Highly Cited
2012
Highly Cited
2012
Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.
Highly Cited
2005
Highly Cited
2005
Inhibitory effects of 4-n-butylresorcinol on tyrosinase activity and melanin synthesis.
In this study, we investigated the effects of 4-n-butylresorcinol on melanogenesis in a spontaneously immortalized mouse… 
Highly Cited
2000
Highly Cited
2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the… 
Highly Cited
1998
Highly Cited
1998
Expression of the SOX10 gene during human development
Review
1995
Review
1995
Insight into the microphthalmia gene.
Highly Cited
1993
Highly Cited
1993
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
Waardenburg syndrome (WS) is a combination of deafness and pigmentary disturbances, normally inherited as an autosomal dominant… 
Highly Cited
1992
Highly Cited
1992
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
HERE we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a… 
Review
1977
Review
1977
Heterogeneity in Waardenburg syndrome.
Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously… 
Highly Cited
1971
Highly Cited
1971
Genetic heterogeneity in the Waardenburg syndrome.
Waardenbury syndrome is divided into three groups: Type I, with dystopia; Type II, and "pseudo-Waardenburg" syndrome, without… 
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