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

Record type: Article

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.

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Citation

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).

More information

e-pub ahead of print date: 30 June 2012
Published date: September 2012
Keywords: transient neonatal diabetes, mellitus, newborn, uniparental isodisomy
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 340870
URI: http://eprints.soton.ac.uk/id/eprint/340870
ISSN: 0168-8227
PURE UUID: cd121efc-3048-4bd1-9eff-c85be3bbb346
ORCID for Deborah J Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 04 Jul 2012 15:48
Last modified: 18 Jul 2017 05:41

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Contributors

Author: Cresio Alves
Author: Sarah E. Flanagan
Author: Sian Ellard

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