| pubmed-article:8723076 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8723076 | lifeskim:mentions | umls-concept:C0024796 | lld:lifeskim |
| pubmed-article:8723076 | lifeskim:mentions | umls-concept:C0679228 | lld:lifeskim |
| pubmed-article:8723076 | lifeskim:mentions | umls-concept:C1527075 | lld:lifeskim |
| pubmed-article:8723076 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:8723076 | pubmed:dateCreated | 1996-10-3 | lld:pubmed |
| pubmed-article:8723076 | pubmed:abstractText | In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et al., 1988]. Over time, weaknesses have emerged in these criteria, a problem accentuated by the advent of molecular testing. In this paper, we propose a revision of diagnostic criteria for Marfan syndrome and related conditions. Most notable are: more stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; potential contribution of molecular analysis to the diagnosis of Marfan syndrome; and delineation of initial criteria for diagnosis of other heritable conditions with partially overlapping phenotypes. | lld:pubmed |
| pubmed-article:8723076 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8723076 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8723076 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8723076 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8723076 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:8723076 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:8723076 | pubmed:author | pubmed-author:DevereuxR BRB | lld:pubmed |
| pubmed-article:8723076 | pubmed:author | pubmed-author:PyeritzR ERE | lld:pubmed |
| pubmed-article:8723076 | pubmed:author | pubmed-author:DietzH CHC | lld:pubmed |
| pubmed-article:8723076 | pubmed:author | pubmed-author:De PaepeAA | lld:pubmed |
| pubmed-article:8723076 | pubmed:author | pubmed-author:HennekamR CRC | lld:pubmed |
| pubmed-article:8723076 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8723076 | pubmed:day | 24 | lld:pubmed |
| pubmed-article:8723076 | pubmed:volume | 62 | lld:pubmed |
| pubmed-article:8723076 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8723076 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8723076 | pubmed:pagination | 417-26 | lld:pubmed |
| pubmed-article:8723076 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8723076 | pubmed:meshHeading | pubmed-meshheading:8723076-... | lld:pubmed |
| pubmed-article:8723076 | pubmed:meshHeading | pubmed-meshheading:8723076-... | lld:pubmed |
| pubmed-article:8723076 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8723076 | pubmed:articleTitle | Revised diagnostic criteria for the Marfan syndrome. | lld:pubmed |
| pubmed-article:8723076 | pubmed:affiliation | Center for Medical Genetics, University Hospital Gent, Belgium. | lld:pubmed |
| pubmed-article:8723076 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8723076 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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