| pubmed-article:17106217 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17106217 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:17106217 | lifeskim:mentions | umls-concept:C0029456 | lld:lifeskim |
| pubmed-article:17106217 | lifeskim:mentions | umls-concept:C0011854 | lld:lifeskim |
| pubmed-article:17106217 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:17106217 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:17106217 | lifeskim:mentions | umls-concept:C0272170 | lld:lifeskim |
| pubmed-article:17106217 | lifeskim:mentions | umls-concept:C1426244 | lld:lifeskim |
| pubmed-article:17106217 | lifeskim:mentions | umls-concept:C0205198 | lld:lifeskim |
| pubmed-article:17106217 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:17106217 | pubmed:dateCreated | 2007-3-5 | lld:pubmed |
| pubmed-article:17106217 | pubmed:abstractText | Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, skeletal abnormalities and hematological dysfunction. The genetic analysis of the SBDS gene and the long-term follow-up of a 37-year-old man with SDS, osteoporosis and type 1 diabetes are reported. Analysis of the SBDS gene revealed a compound heterozygous genotype with 7 mutations. This genotype is the result of the inheritance of abnormal alleles from both healthy parents. We identified putatively non-functional gene conversions from the SBDS pseudogene into the otherwise normal SBDS gene in each of the parentally inherited alleles. The association of SDS and type 1 diabetes mellitus seems to be coincidental and not associated to distinct mutations of the SBDS gene. Osteoporosis in patients with SDS may be the result of a primary defect of the bone metabolism and not of a nutritional problem, although our patient had chronic hypophosphatemia. The long-term follow-up of this patient provides interesting insights into the course of SDS, showing the complexity of genotype-phenotype correlations and the possible influence of other modifying genes and/or environmental factors that might determine the phenotypic presentation of SDS in an individual patient. | lld:pubmed |
| pubmed-article:17106217 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17106217 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17106217 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:17106217 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17106217 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17106217 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17106217 | pubmed:issn | 1424-3903 | lld:pubmed |
| pubmed-article:17106217 | pubmed:author | pubmed-author:KochChristian... | lld:pubmed |
| pubmed-article:17106217 | pubmed:author | pubmed-author:TeichNielsN | lld:pubmed |
| pubmed-article:17106217 | pubmed:author | pubmed-author:EdelmannJeane... | lld:pubmed |
| pubmed-article:17106217 | pubmed:author | pubmed-author:MossnerJoachi... | lld:pubmed |
| pubmed-article:17106217 | pubmed:author | pubmed-author:RosendahlJona... | lld:pubmed |
| pubmed-article:17106217 | pubmed:copyrightInfo | Copyright 2006 S. Karger AG, Basel and IAP. | lld:pubmed |
| pubmed-article:17106217 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17106217 | pubmed:volume | 6 | lld:pubmed |
| pubmed-article:17106217 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17106217 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17106217 | pubmed:pagination | 549-54 | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:meshHeading | pubmed-meshheading:17106217... | lld:pubmed |
| pubmed-article:17106217 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:17106217 | pubmed:articleTitle | Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis. | lld:pubmed |
| pubmed-article:17106217 | pubmed:affiliation | Medizinische Klinik und Poliklinik II, Universitatsklinikum Leipzig, Leipzig, Germany. | lld:pubmed |
| pubmed-article:17106217 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17106217 | pubmed:publicationType | Case Reports | lld:pubmed |
