| pubmed-article:17546031 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17546031 | lifeskim:mentions | umls-concept:C0016395 | lld:lifeskim |
| pubmed-article:17546031 | lifeskim:mentions | umls-concept:C0037083 | lld:lifeskim |
| pubmed-article:17546031 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:17546031 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:17546031 | lifeskim:mentions | umls-concept:C1538703 | lld:lifeskim |
| pubmed-article:17546031 | lifeskim:mentions | umls-concept:C1710082 | lld:lifeskim |
| pubmed-article:17546031 | lifeskim:mentions | umls-concept:C1704735 | lld:lifeskim |
| pubmed-article:17546031 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:17546031 | pubmed:dateCreated | 2007-6-28 | lld:pubmed |
| pubmed-article:17546031 | pubmed:abstractText | Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN. | lld:pubmed |
| pubmed-article:17546031 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17546031 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:17546031 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:17546031 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17546031 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:17546031 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:17546031 | pubmed:author | pubmed-author:HappleRudolfR | lld:pubmed |
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| pubmed-article:17546031 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17546031 | pubmed:volume | 39 | lld:pubmed |
| pubmed-article:17546031 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17546031 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17546031 | pubmed:pagination | 833-5 | lld:pubmed |
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| pubmed-article:17546031 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17546031 | pubmed:articleTitle | Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. | lld:pubmed |
| pubmed-article:17546031 | pubmed:affiliation | Department of Human Genetics, University of Marburg, Bahnhofstr. 7, 35033 Marburg, Germany. grzeschi@staff.uni-marburg.de | lld:pubmed |
| pubmed-article:17546031 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17546031 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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