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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1997-8-22
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pubmed:abstractText |
Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterised by pigmentary anomalies and various defects of neural crest derived tissues. It accounts for over 2% of congenital deafness. WS shows high variability in expressivity within families and differences in penetrance of clinical traits between families. While mutations in the gene PAX3 seem to be responsible for most, if not all, WS type 1, it is still not clear what accounts for the reduced penetrance of deafness. Stochastic events during development may be the factors that determine whether a person with a PAX3 mutation will be congenitally deaf or not. Alternatively, genetic background or non-random environmental factors or both may be significant. We compared the likelihoods for deafness in affected subjects from 24 families with reported PAX3 mutations, and in seven of the families originally described by Waardenburg. We found evidence that stochastic variation alone does not explain the differences in penetrances of deafness among WS families. Our analyses suggest that genetic background in combination with certain PAX3 alleles may be important factors in the aetiology of deafness in WS.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-1303193,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-1308353,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-13435648,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-1347148,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-1347149,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-1349198,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-14166458,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-14902764,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-1670751,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-2022185,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-2036740,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-2218944,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-2339698,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-2763211,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-331943,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-5006208,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-666627,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-7545913,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-7634536,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-7731966,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-7825605,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-7874167,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-7901121,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/9192262-8845842
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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 |
Jun
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
447-52
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9192262-Alleles,
pubmed-meshheading:9192262-DNA-Binding Proteins,
pubmed-meshheading:9192262-Deafness,
pubmed-meshheading:9192262-Female,
pubmed-meshheading:9192262-Humans,
pubmed-meshheading:9192262-Male,
pubmed-meshheading:9192262-Mutation,
pubmed-meshheading:9192262-Paired Box Transcription Factors,
pubmed-meshheading:9192262-Phenotype,
pubmed-meshheading:9192262-Stochastic Processes,
pubmed-meshheading:9192262-Transcription Factors,
pubmed-meshheading:9192262-Waardenburg's Syndrome
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pubmed:year |
1997
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pubmed:articleTitle |
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
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pubmed:affiliation |
Department of Zoology, Michigan State University, East Lansing 48824-1115, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Review
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