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HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50386

Klopocki,  Eva
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50606

Ullmann,  Reinhard
Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Raile, K., Klopocki, E., Wessel, T., Deiss, D., Horn, D., Müller, D., et al. (2008). HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care, 31, e83-e83. doi:10.2337/dc08-0920.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-80CE-E
Abstract
Mature-onset diabetes of the young 5 (MODY5) is characterized by a wide clinical spectrum, including diabetes and kidney disease (1–3). Associated gene defects are either mutations within HNF1B or a 1.4–1.5 Mb monoallelic deletion of chromosome 17q12 including HNF1B (4,5). Up to now, information on prevalence of MODY5 in children and adolescents with diabetes has been very limited (2). We now report prevalence of MODY5 and associated anomalies of HNF1B in a large cohort of children and adolescents with diabetes being followed at our diabetes center.