| pubmed-article:18084123 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18084123 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:18084123 | lifeskim:mentions | umls-concept:C1556094 | lld:lifeskim |
| pubmed-article:18084123 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18084123 | lifeskim:mentions | umls-concept:C2697932 | lld:lifeskim |
| pubmed-article:18084123 | lifeskim:mentions | umls-concept:C0919538 | lld:lifeskim |
| pubmed-article:18084123 | pubmed:issue | 24 | lld:pubmed |
| pubmed-article:18084123 | pubmed:dateCreated | 2007-12-17 | lld:pubmed |
| pubmed-article:18084123 | pubmed:abstractText | This report describes a Japanese family with vessel and craniofacial abnormalities. Although the clinical findings of the patient's father fulfilled the diagnostic criteria for Marfan syndrome, arterial tortuosity, aneurysms, hypertelorism and a bifid uvula were noted in both the patient and his father. These findings were compatible with the clinical manifestations that were previously reported in Loeys-Dietz syndrome. A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome. This is the first Japanese family case report of typical Loeys-Dietz syndrome. | lld:pubmed |
| pubmed-article:18084123 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18084123 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18084123 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18084123 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18084123 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18084123 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18084123 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18084123 | pubmed:issn | 1349-7235 | lld:pubmed |
| pubmed-article:18084123 | pubmed:author | pubmed-author:MatsuzawaYuji... | lld:pubmed |
| pubmed-article:18084123 | pubmed:author | pubmed-author:HiraokaHisato... | lld:pubmed |
| pubmed-article:18084123 | pubmed:author | pubmed-author:NishimuraAkir... | lld:pubmed |
| pubmed-article:18084123 | pubmed:author | pubmed-author:MatsumotoNaom... | lld:pubmed |
| pubmed-article:18084123 | pubmed:author | pubmed-author:SakodaHirotoH | lld:pubmed |
| pubmed-article:18084123 | pubmed:author | pubmed-author:TogashiYosuke... | lld:pubmed |
| pubmed-article:18084123 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18084123 | pubmed:volume | 46 | lld:pubmed |
| pubmed-article:18084123 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18084123 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18084123 | pubmed:pagination | 1995-2000 | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:meshHeading | pubmed-meshheading:18084123... | lld:pubmed |
| pubmed-article:18084123 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:18084123 | pubmed:articleTitle | A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. | lld:pubmed |
| pubmed-article:18084123 | pubmed:affiliation | Department of Internal Medicine, Sumitomo Hospital, Osaka. togashi-yousuke@sumitomo-hp.or.jp | lld:pubmed |
| pubmed-article:18084123 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18084123 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:7048 | entrezgene:pubmed | pubmed-article:18084123 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:18084123 | lld:entrezgene |
