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


Alves, Cresio, Flanagan, Sarah E., Ellard, Sian and Mackay, Deborah J (2012) Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. Diabetes Research and Clinical Practice, 97, (3), e41-e44. (doi:10.1016/j.diabres.2012.05.025). (PMID:22749773).

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Description/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.

Item Type: Article
ISSNs: 0168-8227 (print)
Related URLs:
Keywords: transient neonatal diabetes, mellitus, newborn, uniparental isodisomy
Subjects: R Medicine > RC Internal medicine
R Medicine > RJ Pediatrics > RJ101 Child Health. Child health services
Divisions: Faculty of Medicine > Human Development and Health
ePrint ID: 340870
Date Deposited: 04 Jul 2012 15:48
Last Modified: 27 Mar 2014 20:23
URI: http://eprints.soton.ac.uk/id/eprint/340870

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