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DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

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

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Highly Cited
2009
Highly Cited
2009
Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4… Expand
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2009
2009
Recessive mutations in the SLC26A4 gene are responsible for nonsyndromic enlarged vestibular aqueduct (EVA) and Pendred syndrome… Expand
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Highly Cited
2007
Highly Cited
2007
Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and… Expand
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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… Expand
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Highly Cited
2005
Highly Cited
2005
Enlargement of the vestibular aqueduct (EVA) and its contents, the endolymphatic sac and duct, is the most common radiologic… Expand
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Review
2004
Review
2004
The ten-member SLC26 gene family encodes anion exchangers capable of transporting a wide variety of monovalent and divalent… Expand
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Highly Cited
2000
Highly Cited
2000
More than 50% of severe childhood deafness is genetically determined, approximately 70% of which occurs without other… Expand
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1998
1998
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary hearing impairment (HHI). To date… Expand
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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… Expand
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1995
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… Expand
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