Articles with "variable presentations" as a keyword



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Variable presentations of GCK gene mutation in a family

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Published in 2022 at "BMJ Case Reports"

DOI: 10.1136/bcr-2021-246699

Abstract: We describe siblings born from non-consanguineous parents, with older sibling having asymptomatic hyperglycaemia while younger sibling presented with low birth weight and persistent hyperglycaemia from first month of life. Our case, the older sibling was… read more here.

Keywords: variable presentations; gck gene; gene; mutation family ... See more keywords