| pubmed-article:1557308 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1557308 | lifeskim:mentions | umls-concept:C0015965 | lld:lifeskim |
| pubmed-article:1557308 | lifeskim:mentions | umls-concept:C0008445 | lld:lifeskim |
| pubmed-article:1557308 | lifeskim:mentions | umls-concept:C0020757 | lld:lifeskim |
| pubmed-article:1557308 | lifeskim:mentions | umls-concept:C0162809 | lld:lifeskim |
| pubmed-article:1557308 | lifeskim:mentions | umls-concept:C0033053 | lld:lifeskim |
| pubmed-article:1557308 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:1557308 | lifeskim:mentions | umls-concept:C1261322 | lld:lifeskim |
| pubmed-article:1557308 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:1557308 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:1557308 | pubmed:dateCreated | 1992-5-1 | lld:pubmed |
| pubmed-article:1557308 | pubmed:abstractText | We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration. | lld:pubmed |
| pubmed-article:1557308 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1557308 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1557308 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1557308 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1557308 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1557308 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1557308 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1557308 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1557308 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1557308 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1557308 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1557308 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:1557308 | pubmed:issn | 0197-3851 | lld:pubmed |
| pubmed-article:1557308 | pubmed:author | pubmed-author:ShapiroL JLJ | lld:pubmed |
| pubmed-article:1557308 | pubmed:author | pubmed-author:MooreC MCM | lld:pubmed |
| pubmed-article:1557308 | pubmed:author | pubmed-author:PriceP APA | lld:pubmed |
| pubmed-article:1557308 | pubmed:author | pubmed-author:CampbellLL | lld:pubmed |
| pubmed-article:1557308 | pubmed:author | pubmed-author:HuffR WRW | lld:pubmed |
| pubmed-article:1557308 | pubmed:author | pubmed-author:SchorderetD... | lld:pubmed |
| pubmed-article:1557308 | pubmed:author | pubmed-author:BickD PDP | lld:pubmed |
| pubmed-article:1557308 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1557308 | pubmed:volume | 12 | lld:pubmed |
| pubmed-article:1557308 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1557308 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1557308 | pubmed:pagination | 19-29 | lld:pubmed |
| pubmed-article:1557308 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:1557308 | pubmed:meshHeading | pubmed-meshheading:1557308-... | lld:pubmed |
| pubmed-article:1557308 | pubmed:meshHeading | pubmed-meshheading:1557308-... | lld:pubmed |
| pubmed-article:1557308 | pubmed:meshHeading | pubmed-meshheading:1557308-... | lld:pubmed |
| pubmed-article:1557308 | pubmed:meshHeading | pubmed-meshheading:1557308-... | lld:pubmed |
| pubmed-article:1557308 | pubmed:meshHeading | pubmed-meshheading:1557308-... | lld:pubmed |
| pubmed-article:1557308 | pubmed:meshHeading | pubmed-meshheading:1557308-... | lld:pubmed |
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| pubmed-article:1557308 | pubmed:meshHeading | pubmed-meshheading:1557308-... | lld:pubmed |
| pubmed-article:1557308 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1557308 | pubmed:articleTitle | Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. | lld:pubmed |
| pubmed-article:1557308 | pubmed:affiliation | Genetics and IVF Institute, Fairfax, Virginia 22031. | lld:pubmed |
| pubmed-article:1557308 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1557308 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1557308 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:1557308 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
