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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 |
1999-4-13
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pubmed:abstractText |
Autosomal dominant brachydactyly type B (BDB) is characterized by nail aplasia with rudimentary or absent distal and middle phalanges. We describe two unrelated families with BDB. One family is English; the other family is Canadian but of English ancestry. We assigned the BDB locus in the Canadian family to an 18-cM interval on 9q, using linkage analysis (LOD score 3.5 at recombination fraction [theta] 0, for marker D9S938). Markers across this interval also cosegregated with the BDB phenotype in the English family (LOD score 2.1 at straight theta=0, for marker D9S277). Within this defined interval is a smaller (7.5-cM) region that contains 10 contiguous markers whose disease-associated haplotype is shared by the two families. This latter result suggests a common founder among families of English descent that are affected with BDB.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-13488183,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-13505126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-2122458,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-2333912,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-3173150,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-3385739,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-3780038,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-3978841,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-4009643,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-4325377,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-469884,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-4748760,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-5663738,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-7847374,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-7913883,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-7981857,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-8600387,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-8673114,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-8849440,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-8954778,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-9288091,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-9417915,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-955643,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-9590287,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-9603738,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-9661882,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-9809982,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9973295-9973296
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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 |
Feb
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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 |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
570-7
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:9973295-Activin Receptors, Type I,
pubmed-meshheading:9973295-Chromosome Mapping,
pubmed-meshheading:9973295-Chromosomes, Human, Pair 9,
pubmed-meshheading:9973295-Female,
pubmed-meshheading:9973295-Fingers,
pubmed-meshheading:9973295-Foot Deformities, Congenital,
pubmed-meshheading:9973295-Genes, Dominant,
pubmed-meshheading:9973295-Hand Deformities, Congenital,
pubmed-meshheading:9973295-Haplotypes,
pubmed-meshheading:9973295-Humans,
pubmed-meshheading:9973295-Male,
pubmed-meshheading:9973295-Mutation,
pubmed-meshheading:9973295-Pedigree,
pubmed-meshheading:9973295-Protein-Serine-Threonine Kinases,
pubmed-meshheading:9973295-Receptors, Transforming Growth Factor beta,
pubmed-meshheading:9973295-Toes
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pubmed:year |
1999
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pubmed:articleTitle |
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.
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pubmed:affiliation |
Department of Genetics and Center for Human Genetics, Case WesternReserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH, 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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