DEAFNESS, AUTOSOMAL RECESSIVE 48

Known as: DFNB48 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2004-2018
01220042018

Papers overview

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2018
2018
The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples… (More)
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2017
2017
Defects of CIB2, calcium- and integrin-binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher… (More)
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2016
2016
Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a… (More)
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Review
2016
Review
2016
Hearing plays a crucial role in human development. Receiving and processing sounds are essential for the advancement of the… (More)
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2012
2012
Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium- and… (More)
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2010
2010
Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types… (More)
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2009
2009
Usher syndrome (USH) is a hereditary disorder associated with sensorineural hearing impairment, progressive loss of vision… (More)
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2004
2004
Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15… (More)
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