DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

Known as: Deafness, Autosomal Recessive 4, Neurosensory Nonsyndromic Recessive Deafness 4, DFNB4 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1980-2017
0102019802017

Papers overview

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2011
2011
Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear… (More)
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2009
2009
Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4… (More)
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2007
2007
AbstractIt has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital… (More)
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2007
2007
Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and… (More)
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Highly Cited
2006
Highly Cited
2006
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It… (More)
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Highly Cited
2005
Highly Cited
2005
E nlargement of the vestibular aqueduct (EVA) and its contents, the endolymphatic sac and duct, is the most common radiologic… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a… (More)
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2001
2001
Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter… (More)
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Highly Cited
1996
Highly Cited
1996
Inherited causes account for about 50% of Individuals presenting with childhood (prelingual) hearing loss, of which 70% are due… (More)
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Highly Cited
1995
Highly Cited
1995
Clinically significant hearing loss affects 1 in 1000 infants and it is estimated that at least 50% of these cases are due to a… (More)
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