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DEAFNESS, AUTOSOMAL RECESSIVE 31

Known as: DFNB31, Whirler, Mouse, Homolog Of 
 
National Institutes of Health

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2016
2016
While more than 70 genes have been linked to deafness, most of which are expressed in mechanosensory hair cells of the inner ear… Expand
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2016
2016
Summary WHRN (DFNB31) mutations cause diverse hearing disorders: profound deafness (DFNB31) or variable hearing loss in Usher… Expand
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2015
2015
The DFNB31 gene plays an indispensable role in the cochlea and retina. Mutations in this gene disrupt its various isoforms and… Expand
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2013
2013
BACKGROUND Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe hearing loss and… Expand
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2012
2012
We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a… Expand
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2012
2012
PURPOSE Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa… Expand
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Highly Cited
2006
Highly Cited
2006
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction… Expand
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2005
2005
Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait… Expand
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Highly Cited
2003
Highly Cited
2003
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in… Expand
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2002
2002
We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a… Expand
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