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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

Related topics

Related topics

2 relations
Autosomal recessive inheritanceSensorineural Hearing Loss (disorder)

Papers overview

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Highly Cited
2009
Highly Cited
2009
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
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
Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome
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
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
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
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
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
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic…
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 SLC26 gene family of multifunctional anion exchangers
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
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
More than 50% of severe childhood deafness is genetically determined, approximately 70% of which occurs without other… Expand
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1998
1998
Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
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
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
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
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.
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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