| HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. | |
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MedLine Citation:
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PMID: 21767339 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Gonc EN, Ozturk BB, Haldorsen IS, Molnes J, Immervoll H, Raeder H, Molven A, Søvik O, Njølstad PR. HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. A small-for-gestational age female infant presented with bilateral hypoplastic kidneys at 3 months of age. She developed chronic renal insufficiency. Insulin-requiring, non-autoimmune diabetes was documented at 6 years of age. She had mild steatosis and iron deposition in the liver, and mal-development of pancreas. Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5). This is the first case of HNF1B-MODY reported from Turkey and represents a particularly severe phenotype of the disease. |
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Authors:
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E Nazli Gonc; Burcu Bulum Ozturk; Ingfrid S Haldorsen; Janne Molnes; Heike Immervoll; Helge Raeder; Anders Molven; Oddmund Søvik; Pål R Njølstad |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-19 |
Journal Detail:
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Title: Pediatric diabetes Volume: - ISSN: 1399-5448 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-7-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100939345 Medline TA: Pediatr Diabetes Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2011 John Wiley & Sons A/S. |
Affiliation:
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Department of Pediatric Endocrinology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey Department of Radiology, Haukeland University Hospital, N-5021 Bergen, Norway Department of Clinical Medicine, University of Bergen, N-5020 Bergen, Norway The Gade Institute, University of Bergen, N-5020 Bergen, Norway Department of Pathology, Haukeland University Hospital, N-5021 Bergen, Norway Department of Pediatrics, Haukeland University Hospital, N-5021 Bergen, Norway. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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