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DEAFNESS, X-LINKED 4 (disorder)

Known as: Deafness, Nonsyndromic Sensorineural Progressive 6, Deafness, X-Linked 4, DEAFNESS, X-LINKED 6, PROGRESSIVE 
 
National Institutes of Health

Papers overview

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2019
2019
Abstract Background X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing… Expand
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2018
2018
OBJECTIVE X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor… Expand
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2014
2014
PURPOSE To describe the inheritance patterns and auditory phenotype features of 3 Canadian families with mutations in 2 X-linked… Expand
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Review
2012
Review
2012
To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. Until recently, four loci (DFN2, DFN3… Expand
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2011
2011
OBJECTIVE Investigation of the audiometric characteristics of a large Dutch DFNX4 family with a p.Glu72X mutation in the SMPX… Expand
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2002
2002
 
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Review
2000
Review
2000
 
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Highly Cited
1998
Highly Cited
1998
Eukaryotic protein kinases are part of a large and expanding family of proteins. Through our transcriptional mapping effort in… Expand
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1998
1998
The Xp22.1-p22.2 interval is a focus of interest as a number of hereditary disease loci have been mapped to this region… Expand
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1996
1996
Non-syndromic X-linked deafness is highly heterogeneous. At least five different clinical forms have been described, but only two… Expand
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