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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1992-6-18
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pubmed:abstractText |
A previously unreported family in which seven members in two generations have Beckwith-Wiedemann syndrome (BWS) is documented. Paternal imprinting of the gene responsible for BWS is involved as the mechanism responsible for the aberrant inheritance pattern in this kindred. A review of published reports showed 27 previously published pedigrees with two or more affected subjects with BWS. Paternal imprinting would explain the non-mendelian inheritance of BWS in all but four kindreds. The latter families are examined in more detail and in only one example is the evidence against imprinting totally unexplained.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-1022851,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-13434603,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-1404305,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-14231762,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-2038600,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-2151033,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-2764022,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-2905880,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-3019515,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-3518454,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-3706412,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-3780031,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-3876070,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-4111600,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-4123327,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-4125428,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-4133452,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-4865835,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-5015569,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-51325,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-5421327,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-5567033,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-610426,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-6674415,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-6745943,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-6854451,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-7189783,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-7463028,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-879119,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1583639-976281
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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 |
Apr
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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 |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
221-5
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
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pubmed:year |
1992
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pubmed:articleTitle |
Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.
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pubmed:affiliation |
Department of Human Genetics, University of Cape Town Medical School, South Africa.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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