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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2006-3-9
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pubmed:abstractText |
Brachydactyly type A2 (OMIM 112600) is characterised by hypoplasia/aplasia of the second middle phalanx of the index finger and sometimes the little finger. BDA2 was first described by Mohr and Wriedt in a large Danish/Norwegian kindred and mutations in BMPR1B were recently demonstrated in two affected families.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-11169564,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-11455389,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-12121354,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-12357473,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-14523231,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-15064755,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-15752764,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-2363425,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-5079664,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-8056435,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-8145850,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-8589725,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-8702914,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-9288091,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16014698-984049
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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 |
Mar
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pubmed:issn |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
225-31
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16014698-Binding Sites,
pubmed-meshheading:16014698-Bone Morphogenetic Protein Receptors, Type I,
pubmed-meshheading:16014698-Bone Morphogenetic Proteins,
pubmed-meshheading:16014698-Chromosome Mapping,
pubmed-meshheading:16014698-DNA Primers,
pubmed-meshheading:16014698-Female,
pubmed-meshheading:16014698-Growth Differentiation Factor 5,
pubmed-meshheading:16014698-Hand Deformities, Congenital,
pubmed-meshheading:16014698-Humans,
pubmed-meshheading:16014698-Male,
pubmed-meshheading:16014698-Mutation,
pubmed-meshheading:16014698-Pedigree
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pubmed:year |
2006
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pubmed:articleTitle |
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
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pubmed:affiliation |
Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark. klaus@medgen.ku.dk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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