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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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA… 
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… 
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… 
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… 
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… 
Review
2002
Review
2002
Hereditary deafness and phenotyping in humans.
Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non… 
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… 
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… 
Highly Cited
2000
Highly Cited
2000
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride… 
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… 
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