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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2000-8-21
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pubmed:abstractText |
Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. After exclusion of a candidate region previously identified for syndactyly type 2 (synpolydactyly), we performed a genomewide linkage analysis in a large German pedigree. We found evidence for linkage of SD1 to polymorphic markers on chromosome 2q34-q36, with a maximum LOD score of 12.40 for marker D2S301. Key recombination events in affected individuals defined a 9.4-cM region between markers D2S2319 and D2S344. The identification of the responsible gene will give further insights into the molecular basis of limb development.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-10343101,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-10498937,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-10712204,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-6249121,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-6269324,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-6587361,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-7580140,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-7720571,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-8269518,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-8275860,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-8600387,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-8614804,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-8662546,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10877983-9718341
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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 |
Aug
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
67
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
492-7
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:10877983-Chromosome Mapping,
pubmed-meshheading:10877983-Chromosomes, Human, Pair 2,
pubmed-meshheading:10877983-Female,
pubmed-meshheading:10877983-Germany,
pubmed-meshheading:10877983-Haplotypes,
pubmed-meshheading:10877983-Humans,
pubmed-meshheading:10877983-Lod Score,
pubmed-meshheading:10877983-Male,
pubmed-meshheading:10877983-Microsatellite Repeats,
pubmed-meshheading:10877983-Pedigree,
pubmed-meshheading:10877983-Phenotype,
pubmed-meshheading:10877983-Polymorphism, Genetic,
pubmed-meshheading:10877983-Syndactyly
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pubmed:year |
2000
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pubmed:articleTitle |
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
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pubmed:affiliation |
Institute of Human Genetics, University of Bonn, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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