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HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents
Author(s) -
Klemens Raile,
Eva Klopocki,
Theda Wessel,
Dorothee Deiss,
Denise Horn,
Dominik Müller,
Reinhard Ullmann,
Annette Grüters
Publication year - 2008
Publication title -
diabetes care
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.636
H-Index - 363
eISSN - 1935-5548
pISSN - 0149-5992
DOI - 10.2337/dc08-0920
Subject(s) - hnf1b , medicine , diabetes mellitus , abnormality , genetics , gene , homeobox , psychiatry , endocrinology , biology , gene expression
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

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