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… (More)
National Institutes of Health

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Autosomal dominant inheritanceBlepharophimosisClass III malocclusionCleft palate with cleft lip
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Waardenburg Syndrome

Papers overview

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2010
2010
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
PURPOSE To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type… (More)
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Review
2006
Review
2006
Waardenburg syndrome type 1.
Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and… (More)
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Review
2003
Review
2003
Mouse models for four types of Waardenburg syndrome.
Waardenburg syndrome (WS) is an auditory-pigmentary syndrome caused by a deficiency of melanocytes and other neural crest-derived… (More)
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Highly Cited
2000
Highly Cited
2000
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
Waardenburg syndrome (WS) is an autosomal dominant disorder with an incidence of 1 in 40 000 that manifests with sensorineural… (More)
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Highly Cited
2000
Highly Cited
2000
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.
The absence of melanocytes from the cochlea and epidermis is responsible of deafness and hypopigmentation, two symptoms shared by… (More)
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Highly Cited
1998
Highly Cited
1998
Epistatic relationship between Waardenburg Syndrome genes MITF and PAX3
Waardenburg syndrome (WS) is a hereditary disorder that causes hypopigmentation and hearing impairment. Depending on additional… (More)
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1995
1995
Homozygosity for Waardenburg syndrome.
In a large kindred including many individuals affected with Waardenburg (WS) type 1 (WS1) syndrome, a child affected with a very… (More)
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Highly Cited
1994
Highly Cited
1994
The mutational spectrum in Waardenburg syndrome.
One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such as Waardenburg syndrome (WS) or… (More)
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1992
1992
Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.
Splotch is considered a model of Waardenburg syndrome type I (WSI) because the abnormalities are caused by mutations in… (More)
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Highly Cited
1992
Highly Cited
1992
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.
Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the… (More)
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