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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1999-6-8
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pubmed:abstractText |
Locus DFN4 is an X-linked nonsyndromic hearing loss locus originally mapped to Xp21.2. Recently, we have mapped deafness in a second family from Turkey to the same region, refining the location to within the Duchenne muscular dystrophy (DMD) locus. The objective of this study was to characterize the clinical phenotype of the Turkish family with comprehensive audiovestibular testing and high-resolution temporal bone computerized tomography.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0023-852X
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
109
|
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
730-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:10334222-Dystrophin,
pubmed-meshheading:10334222-Female,
pubmed-meshheading:10334222-Genetic Linkage,
pubmed-meshheading:10334222-Hearing Loss, Sensorineural,
pubmed-meshheading:10334222-Heterozygote,
pubmed-meshheading:10334222-Humans,
pubmed-meshheading:10334222-Male,
pubmed-meshheading:10334222-Otoacoustic Emissions, Spontaneous,
pubmed-meshheading:10334222-Pedigree,
pubmed-meshheading:10334222-Phenotype,
pubmed-meshheading:10334222-Protein Isoforms,
pubmed-meshheading:10334222-Turkey,
pubmed-meshheading:10334222-Vestibular Function Tests,
pubmed-meshheading:10334222-X Chromosome
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pubmed:year |
1999
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pubmed:articleTitle |
Clinical evidence for dystrophin dysfunction as a cause of hearing loss in locus DFN4.
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pubmed:affiliation |
Laboratory of Molecular Otology, Epstein Laboratories, University of California, San Francisco 94143-0526, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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