| pubmed-article:1583639 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1583639 | lifeskim:mentions | umls-concept:C0241888 | lld:lifeskim |
| pubmed-article:1583639 | lifeskim:mentions | umls-concept:C0337493 | lld:lifeskim |
| pubmed-article:1583639 | lifeskim:mentions | umls-concept:C0004903 | lld:lifeskim |
| pubmed-article:1583639 | lifeskim:mentions | umls-concept:C0021118 | lld:lifeskim |
| pubmed-article:1583639 | lifeskim:mentions | umls-concept:C0332120 | lld:lifeskim |
| pubmed-article:1583639 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:1583639 | pubmed:dateCreated | 1992-6-18 | lld:pubmed |
| pubmed-article:1583639 | 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. | lld:pubmed |
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| pubmed-article:1583639 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1583639 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1583639 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1583639 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1583639 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:1583639 | pubmed:issn | 0022-2593 | lld:pubmed |
| pubmed-article:1583639 | pubmed:author | pubmed-author:RamesarRR | lld:pubmed |
| pubmed-article:1583639 | pubmed:author | pubmed-author:ViljoenDD | lld:pubmed |
| pubmed-article:1583639 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1583639 | pubmed:volume | 29 | lld:pubmed |
| pubmed-article:1583639 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1583639 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1583639 | pubmed:pagination | 221-5 | lld:pubmed |
| pubmed-article:1583639 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:1583639 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1583639 | pubmed:articleTitle | Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome. | lld:pubmed |
| pubmed-article:1583639 | pubmed:affiliation | Department of Human Genetics, University of Cape Town Medical School, South Africa. | lld:pubmed |
| pubmed-article:1583639 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1583639 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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