| pubmed-article:1433240 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1433240 | lifeskim:mentions | umls-concept:C0175702 | lld:lifeskim |
| pubmed-article:1433240 | lifeskim:mentions | umls-concept:C1549863 | lld:lifeskim |
| pubmed-article:1433240 | lifeskim:mentions | umls-concept:C1515568 | lld:lifeskim |
| pubmed-article:1433240 | lifeskim:mentions | umls-concept:C2348519 | lld:lifeskim |
| pubmed-article:1433240 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:1433240 | pubmed:dateCreated | 1992-11-27 | lld:pubmed |
| pubmed-article:1433240 | pubmed:abstractText | We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed. | lld:pubmed |
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| pubmed-article:1433240 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1433240 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1433240 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1433240 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1433240 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:1433240 | pubmed:issn | 0022-2593 | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:SinghP SPS | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:DulacOO | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:PonsotGG | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:PompidouAA | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:IonRR | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:FeingoldJJ | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:TelviLL | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:NicoleAA | lld:pubmed |
| pubmed-article:1433240 | pubmed:author | pubmed-author:PinardJ MJM | lld:pubmed |
| pubmed-article:1433240 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1433240 | pubmed:volume | 29 | lld:pubmed |
| pubmed-article:1433240 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1433240 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1433240 | pubmed:pagination | 747-9 | lld:pubmed |
| pubmed-article:1433240 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
| pubmed-article:1433240 | pubmed:meshHeading | pubmed-meshheading:1433240-... | lld:pubmed |
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| pubmed-article:1433240 | pubmed:meshHeading | pubmed-meshheading:1433240-... | lld:pubmed |
| pubmed-article:1433240 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1433240 | pubmed:articleTitle | De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome. | lld:pubmed |
| pubmed-article:1433240 | pubmed:affiliation | Service d'Histologie-Embryologie-Cytogénétique et Anatomie Pathologique, Hôpital Saint Vincent de Paul, Paris, France. | lld:pubmed |
| pubmed-article:1433240 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1433240 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1433240 | lld:pubmed |
