Source:http://linkedlifedata.com/resource/pubmed/id/16028794
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
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| pubmed:dateCreated |
2005-7-20
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| pubmed:abstractText |
The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or IIA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
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| pubmed:issn |
1499-2027
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
44
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
307-16
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:16028794-Abnormalities, Multiple,
pubmed-meshheading:16028794-Adolescent,
pubmed-meshheading:16028794-Adult,
pubmed-meshheading:16028794-Aged,
pubmed-meshheading:16028794-Audiometry, Pure-Tone,
pubmed-meshheading:16028794-Auditory Threshold,
pubmed-meshheading:16028794-Caloric Tests,
pubmed-meshheading:16028794-Child,
pubmed-meshheading:16028794-Child, Preschool,
pubmed-meshheading:16028794-Female,
pubmed-meshheading:16028794-Genotype,
pubmed-meshheading:16028794-Hearing Disorders,
pubmed-meshheading:16028794-Humans,
pubmed-meshheading:16028794-Male,
pubmed-meshheading:16028794-Membrane Proteins,
pubmed-meshheading:16028794-Middle Aged,
pubmed-meshheading:16028794-Mutation,
pubmed-meshheading:16028794-Phenotype,
pubmed-meshheading:16028794-Syndrome,
pubmed-meshheading:16028794-Vestibular Diseases
|
| pubmed:year |
2005
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| pubmed:articleTitle |
Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
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| pubmed:affiliation |
The Sahlgrenska Academy, Institute of Selected Clinical Sciences, Dept. of Audiology, Box 452, SE-405 30 Gothenburg, Sweden. mehdi.sadeghi@audiology.gu.se
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|