Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618198
Title:
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
Authors:
Gonc, E. N.; Ozon, A.; Alikasifoglu, A.; Haliloğlu, M.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Shaw-Smith, Charles; Kandemir, N.
Abstract:
Neonatal 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.
Citation:
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. 2015, 84 (3):206-11 Horm Res Paediatr
Publisher:
Karger
Journal:
Hormone Research in Paediatrics
Issue Date:
2015
URI:
http://hdl.handle.net/11287/618198
DOI:
10.1159/000435782
PubMed ID:
26184423
Additional Links:
http://www.karger.com/?DOI=10.1159/000435782
Type:
Case Report
Language:
en
ISSN:
1663-2826
Appears in Collections:
2015 RD&E publications; Clinical Genetics (Peninsula Genetics); Molecular Genetics

Full metadata record

DC FieldValue Language
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

Related articles on PubMed

All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.