Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • table 3
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
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
  • table 1
  • table 2
  • table 3
  • table 4
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
Review
2004
Review
2004
The ten-member SLC26 gene family encodes anion exchangers capable of transporting a wide variety of monovalent and divalent… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
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… Expand
Highly Cited
2000
Highly Cited
2000
More than 50% of severe childhood deafness is genetically determined, approximately 70% of which occurs without other… Expand
  • figure 1
  • table 1
  • figure 2
  • figure 3
Highly Cited
2000
Highly Cited
2000
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride… Expand
  • table 1
  • figure 1
  • figure 3
  • figure 2
  • figure 4
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
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… Expand