Article

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of<i>FOXA2</i>

2023-08-21

Abstract excerpt

Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known HI genes does not identify a disease-causing variant. Large deletions have previously been used to identify novel regulatory regions causing HI. Here, we used genome sequencing...

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Literature Corpus work: 8e6d2a27-be19-55f0-8a3e-da786416e4a7
DOI: 10.1101/2023.08.16.23294161

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