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dc.contributor.authorGonc, E. N.en
dc.contributor.authorOzon, A.en
dc.contributor.authorAlikasifoglu, A.en
dc.contributor.authorHaliloğlu, M.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorShaw-Smith, Charlesen
dc.contributor.authorKandemir, N.en
dc.date.accessioned2016-08-10T10:19:43Z
dc.date.available2016-08-10T10:19:43Z
dc.date.issued2015
dc.identifier.citationVariable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. 2015, 84 (3):206-11 Horm Res Paediatren
dc.identifier.issn1663-2826
dc.identifier.pmid26184423
dc.identifier.doi10.1159/000435782
dc.identifier.urihttp://hdl.handle.net/11287/618198
dc.description.abstractNeonatal diabetes is a rare form of diabetes, characterized by onset in the first 6 months of life. A number of cases are due to pancreas agenesis. Recently, PTF1A enhancer mutations have been shown to cause neonatal diabetes associated with pancreatic agenesis. Herein, we report the clinical features of two siblings with PTF1A enhancer mutations, one of whom had neonatal diabetes, whereas the elder sister had a milder form of the disease with onset of diabetes at 9 years of age.en
dc.language.isoenen
dc.publisherKargeren
dc.relation.urlhttp://www.karger.com/?DOI=10.1159/000435782en
dc.rightsArchived with thanks to Hormone research in pædiatricsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleVariable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.en
dc.typeCase Reporten
dc.identifier.journalHormone Research in Paediatricsen
dc.type.versionPublisheden


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