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1. Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children

Author

Alves, Cresio, Flanagan, Sarah E., Ellard, Sian, and Mackay, Deborah J.

Subjects
*DIABETES in children, *CHROMOSOMES, *BRAZILIANS, *PATHOLOGICAL physiology, *GENETIC mutation, *DISEASES
Abstract

Abstract: We report a series of patients with transient neonatal diabetes mellitus (TNDM). Paternal uniparental isodisomy of chromosome 6 and heterozygous KCNJ11 and ABC88 mutation were the mutations found. This first reported series of Brazilian patients expands the geographical data on TNDM contributing to better understanding of its pathophysiology. [Copyright &y& Elsevier]

Published
2012
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