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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 |
1998-5-21
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pubmed:abstractText |
We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural hearing loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at theta = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-1347148,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-1518019,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-1693521,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-1706581,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-1952587,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-2144212,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-2892781,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-3549074,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-4127474,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-4164668,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-426441,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-478043,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-6019757,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-6178719,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-6679889,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-8322805,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-835578,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-8440069,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-8664898,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-8731041,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-8849440,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-8944017,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9545407-9049802
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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:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0002-9297
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pubmed:author |
pubmed-author:CalderaR MRM,
pubmed-author:EaveyR DRD,
pubmed-author:FloresM AMA,
pubmed-author:Lubianca NetoJ FJF,
pubmed-author:MOGG,
pubmed-author:McDonoughBB,
pubmed-author:SangwatanarojSS,
pubmed-author:SantosJ IJI,
pubmed-author:SchottJ JJJ,
pubmed-author:SeidmanC ECE,
pubmed-author:SeidmanJ GJG
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pubmed:issnType |
Print
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1107-12
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9545407-Abnormalities, Multiple,
pubmed-meshheading:9545407-Chromosome Mapping,
pubmed-meshheading:9545407-Chromosomes, Human, Pair 2,
pubmed-meshheading:9545407-Female,
pubmed-meshheading:9545407-Hair,
pubmed-meshheading:9545407-Hearing Loss, Sensorineural,
pubmed-meshheading:9545407-Humans,
pubmed-meshheading:9545407-Male,
pubmed-meshheading:9545407-Pedigree,
pubmed-meshheading:9545407-Syndrome
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pubmed:year |
1998
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pubmed:articleTitle |
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
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pubmed:affiliation |
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02115, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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