| pubmed-article:9502561 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9502561 | lifeskim:mentions | umls-concept:C0687120 | lld:lifeskim |
| pubmed-article:9502561 | lifeskim:mentions | umls-concept:C0013903 | lld:lifeskim |
| pubmed-article:9502561 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:9502561 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:9502561 | pubmed:dateCreated | 1998-4-24 | lld:pubmed |
| pubmed-article:9502561 | pubmed:abstractText | Ellis-van Creveld (EvC) and Jeune's asphyxiating thoracic dystrophy (ATD) are related disorders characterized by narrow thoracic cage and short-limbed dwarfism. Some patients have overlapping features of both ATD and EvC, indicating that these syndromes may be a part of a disease spectrum. Nephronophthisis has been occasionally reported in patients with ATD, but not with EvC syndrome. We report a patient who was diagnosed with EvC syndrome at birth. He developed hypertension at 5 months of age and gradually progressive renal failure, requiring renal transplantation at 8 years. Histopathological findings in the nephrectomy specimen were indicative of nephronophthisis. The association of nephronophthisis in a patient with EvC syndrome has not been reported previously. This association further supports the hypothesis that ATD and EvC syndromes are related and represent a spectrum of disorders. | lld:pubmed |
| pubmed-article:9502561 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9502561 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9502561 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9502561 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9502561 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:9502561 | pubmed:issn | 0931-041X | lld:pubmed |
| pubmed-article:9502561 | pubmed:author | pubmed-author:RimoinD LDL | lld:pubmed |
| pubmed-article:9502561 | pubmed:author | pubmed-author:LachmanR SRS | lld:pubmed |
| pubmed-article:9502561 | pubmed:author | pubmed-author:CohenA HAH | lld:pubmed |
| pubmed-article:9502561 | pubmed:author | pubmed-author:JordanS CSC | lld:pubmed |
| pubmed-article:9502561 | pubmed:author | pubmed-author:BaggeEE | lld:pubmed |
| pubmed-article:9502561 | pubmed:author | pubmed-author:MoudgilAA | lld:pubmed |
| pubmed-article:9502561 | pubmed:author | pubmed-author:KamilE SES | lld:pubmed |
| pubmed-article:9502561 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9502561 | pubmed:volume | 12 | lld:pubmed |
| pubmed-article:9502561 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9502561 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9502561 | pubmed:pagination | 20-2 | lld:pubmed |
| pubmed-article:9502561 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:meshHeading | pubmed-meshheading:9502561-... | lld:pubmed |
| pubmed-article:9502561 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9502561 | pubmed:articleTitle | Nephronophthisis associated with Ellis-van Creveld syndrome. | lld:pubmed |
| pubmed-article:9502561 | pubmed:affiliation | Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA. | lld:pubmed |
| pubmed-article:9502561 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9502561 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9502561 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9502561 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9502561 | lld:pubmed |
