Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618183
Title:
Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.
Authors:
Habeb, A. M.; Deeb, A.; Johnson, M.; Abdullah, M.; Abdulrasoul, M.; Al-Awneh, H.; Al-Maghamsi, M. S. F.; Al-Murshedi, F.; Al-Saif, R.; Al-Sinani, S.; Ramadan, D.; Tfayli, H.; Flanagan, Sarah; Ellard, Sian ( 0000-0002-7620-5526 )
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.
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
Publisher:
Karger
Journal:
Hormone Research in Paediatrics
Issue Date:
Apr-2015
URI:
http://hdl.handle.net/11287/618183
DOI:
10.1159/000369804
PubMed ID:
25659842
Additional Links:
http://www.karger.com/?DOI=10.1159/000369804
Note:
This article is freely available via Open Access. Click on the 'Additional Link' above to access the full text.
Type:
Journal Article; Clinical Trial; Multicenter Study; Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1663-2826
Appears in Collections:
2015 RD&E publications; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorHabeb, A. M.en
dc.contributor.authorDeeb, A.en
dc.contributor.authorJohnson, M.en
dc.contributor.authorAbdullah, M.en
dc.contributor.authorAbdulrasoul, M.en
dc.contributor.authorAl-Awneh, H.en
dc.contributor.authorAl-Maghamsi, M. S. F.en
dc.contributor.authorAl-Murshedi, F.en
dc.contributor.authorAl-Saif, R.en
dc.contributor.authorAl-Sinani, S.en
dc.contributor.authorRamadan, D.en
dc.contributor.authorTfayli, H.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorEllard, Sianen
dc.date.accessioned2016-08-10T10:24:04Z-
dc.date.available2016-08-10T10:24:04Z-
dc.date.issued2015-04-
dc.identifier.citationLiver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort. 2015, 83 (3):190-7 Horm Res Paediatren
dc.identifier.issn1663-2826-
dc.identifier.pmid25659842-
dc.identifier.doi10.1159/000369804-
dc.identifier.urihttp://hdl.handle.net/11287/618183-
dc.description.abstractWolcott-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.isoenen
dc.publisherKargeren
dc.relation.urlhttp://www.karger.com/?DOI=10.1159/000369804en
dc.rightsArchived with thanks to Hormone research in pædiatricsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Paediatricsen
dc.titleLiver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.en
dc.typeJournal Articleen
dc.typeClinical Trialen
dc.typeMulticenter Studyen
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalHormone Research in Paediatricsen
dc.description.noteThis article is freely available via Open Access. Click on the 'Additional Link' above to access the full text.en
dc.type.versionPublisheden

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