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Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.

Abstract:

BACKGROUND: Maturity-onset diabetes of the young (MODY) caused by heterozygous mutations in the glucokinase (GCK) gene typically presents with lifelong, stable, mild fasting hyperglycaemia. With the exception of pregnancy, patients with GCK-MODY usually do not require pharmacological therapy. We report two unrelated patients whose initial genetic test results indicated a deletion of GCK exon 10, but whose clinical phenotypes were not typical of GCK-MODY. CASE REPORTS: In case 1, the patient w...

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Publication status:
Published

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Publisher copy:
10.1111/dme.12210

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Journal:
Diabetic medicine : a journal of the British Diabetic Association More from this journal
Volume:
30
Issue:
8
Pages:
e233-e238
Publication date:
2013-08-01
DOI:
EISSN:
1464-5491
ISSN:
0742-3071
Language:
English
Keywords:
Pubs id:
pubs:395916
UUID:
uuid:f8c7c95d-e884-4d05-ade8-8195ec8e61a9
Local pid:
pubs:395916
Source identifiers:
395916
Deposit date:
2013-11-16

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