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Endocrine Abstracts

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ea0016p597 | Paediatric endocrinology | ECE2008

New clinical features and detailed genetic analysis of heterozygous 17q12 deletion syndrome, leading to loss of TCF2 and MODY5

Raile Klemens , Wessel Theda , Deiss Dorothee , Mueller Dominik , Horn Denise , Riebel Wolfgang , Ullmann Reinhard , Klopocki Eva , Grueters Annette

Objective: MODY5 is caused by abnormalities in the TCF2 gene encoding the transcription factor HNF1β. We investigated cases of MODY5 for the underlying type of TCF2 anomaly.Case presentations: From 623 children and adolescents with diabetes mellitus followed at our diabetes clinic in 2006, 64 were negative for islet cell autoantibodies (GAD, IA-2, ICA) within the first year of diagnosis and out of these, four patients presented clinica...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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