Article

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

2020-08-04

Abstract excerpt

<h4>Background: </h4> Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these deletions with the most common being facial dysmorphisms and neurological impairment. Congenital hyperinsulinism is a rarely reported feature of the syndrome with the genetic mechanis...

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Literature Corpus work: 8a565e3c-8db3-514d-955c-bfbcd96d4682
DOI: 10.12688/wellcomeopenres.15465.2

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