| http://purl.uniprot.org/citations/27633572 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27633572 | http://www.w3.org/2000/01/rdf-schema#comment | "Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS."xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejmg.2016.09.005"xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/author | "Devriendt K."xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/author | "Verleyen P."xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/author | "Holvoet M."xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/author | "Dardour L."xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/author | "Lesage K."xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/name | "Eur J Med Genet"xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/pages | "499-501"xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/title | "Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene."xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://purl.uniprot.org/core/volume | "59"xsd:string |
| http://purl.uniprot.org/citations/27633572 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27633572 |
| http://purl.uniprot.org/citations/27633572 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/27633572 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z5Y7-mappedCitation-27633572 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27633572 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z643-mappedCitation-27633572 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27633572 |
| http://purl.uniprot.org/uniprot/#_Q8NFG4-mappedCitation-27633572 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27633572 |
| http://purl.uniprot.org/uniprot/#_Q8NDS2-mappedCitation-27633572 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27633572 |
| http://purl.uniprot.org/uniprot/Q8NFG4 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/27633572 |
| http://purl.uniprot.org/uniprot/A0A0S2Z643 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/27633572 |
| http://purl.uniprot.org/uniprot/Q8NDS2 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/27633572 |
| http://purl.uniprot.org/uniprot/A0A0S2Z5Y7 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/27633572 |