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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1950-2017
010203019502016

Papers overview

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Highly Cited
2007
Highly Cited
2007
Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and… (More)
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Highly Cited
2000
Highly Cited
2000
Waardenburg syndrome (WS) is associated with neural crest-derived melanocyte deficiency caused by mutations in either one of… (More)
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Highly Cited
2000
Highly Cited
2000
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
1998
Highly Cited
1998
Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's disease (HSCR; aganglionic megacolon) are… (More)
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Highly Cited
1998
Highly Cited
1998
Waardenburg syndrome (WS) is a hereditary disorder that causes hypopigmentation and hearing impairment. Depending on additional… (More)
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Highly Cited
1997
Highly Cited
1997
Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most… (More)
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Highly Cited
1996
Highly Cited
1996
Hirschsprung disease (HSCR) and Waardenburg syndrome (WS) are congenital malformations regarded as neurocristopathies since both… (More)
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Highly Cited
1996
Highly Cited
1996
Hirschsprung disease (HSCR) or colonic agan-glionosis is a congenital disorder characterized by an absence of intramural ganglia… (More)
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1995
1995
One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such as Waardenburg syndrome (WS) or… (More)
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Highly Cited
1994
Highly Cited
1994
Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently… (More)
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