dc.contributor.author | Habeb, A. M. | en |
dc.contributor.author | Deeb, A. | en |
dc.contributor.author | Johnson, M. | en |
dc.contributor.author | Abdullah, M. | en |
dc.contributor.author | Abdulrasoul, M. | en |
dc.contributor.author | Al-Awneh, H. | en |
dc.contributor.author | Al-Maghamsi, M. S. F. | en |
dc.contributor.author | Al-Murshedi, F. | en |
dc.contributor.author | Al-Saif, R. | en |
dc.contributor.author | Al-Sinani, S. | en |
dc.contributor.author | Ramadan, D. | en |
dc.contributor.author | Tfayli, H. | en |
dc.contributor.author | Flanagan, Sarah | en |
dc.contributor.author | Ellard, Sian | en |
dc.date.accessioned | 2016-08-10T10:24:04Z | |
dc.date.available | 2016-08-10T10:24:04Z | |
dc.date.issued | 2015-04 | |
dc.identifier.citation | Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort. 2015, 83 (3):190-7 Horm Res Paediatr | en |
dc.identifier.issn | 1663-2826 | |
dc.identifier.pmid | 25659842 | |
dc.identifier.doi | 10.1159/000369804 | |
dc.identifier.uri | http://hdl.handle.net/11287/618183 | |
dc.description.abstract | Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients. | en |
dc.language.iso | en | en |
dc.publisher | Karger | en |
dc.relation.url | http://www.karger.com/?DOI=10.1159/000369804 | en |
dc.rights | Archived with thanks to Hormone research in pædiatrics | en |
dc.subject | Wessex Classification Subject Headings::Oncology. Pathology.::Genetics | en |
dc.subject | Wessex Classification Subject Headings::Paediatrics | en |
dc.title | Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort. | en |
dc.type | Journal Article | en |
dc.type | Clinical Trial | en |
dc.type | Multicenter Study | en |
dc.type | Research Support, Non-U.S. Gov't | en |
dc.identifier.journal | Hormone Research in Paediatrics | en |
dc.description.note | This article is freely available via Open Access. Click on the 'Additional Link' above to access the full text. | en |
dc.type.version | Published | en |