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Journal article

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.

Abstract:

OBJECTIVE: Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in permanent neonatal diabetes is mutations of the ATP-sensitive K(+) channel subunits; in transient neonatal diabetes, chromosome 6q24 abnormalities are the most common cause. RESEARCH DESIGN AND METHODS: We report a sporadic case of diabetes without ketoacidosis diagnosed on the fourth day of life. RESULTS: Analysis of the KCNJ11 gene found ...

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Publication status:
Published

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Publisher copy:
10.2337/dc08-0549

Authors


Staník, J More by this author
Flanagan, SE More by this author
Gasperíková, D More by this author
Milosovicová, B More by this author
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Journal:
Diabetes care
Volume:
31
Issue:
9
Pages:
1736-1737
Publication date:
2008-09-05
DOI:
EISSN:
1935-5548
ISSN:
0149-5992
URN:
uuid:c2990b6d-569c-4e18-9268-644e06728183
Source identifiers:
114743
Local pid:
pubs:114743

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