FAQ

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

Related topics

Related topics

2 relations
Autosomal recessive inheritanceSensorineural Hearing Loss (disorder)

Related mentions per year

Related mentions per year

1940-2018
19401960198020002020
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
Autosomal recessive inheritance
Sensorineural Hearing Loss (disorder)

Papers overview

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2011
2011
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
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 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… (More)
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2007
2007
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
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
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… (More)
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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… (More)
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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…
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
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
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
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
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
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… (More)
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Highly Cited
1995
Highly Cited
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… (More)
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