Article

Comprehensive screening shows that mutations in the known syndromic genes are rare in individuals presenting with hyperinsulinaemic hypoglycaemia

2018-06-14

Abstract excerpt

<h4>Objective</h4> Hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or more rarely feature as part of a syndrome. Screening for mutations in the ‘syndromic HH’ genes is guided by phenotype with genetic testing used to confirm the clinical diagnosis. As HH can be the presenting feature of a syndrome it is possible that mutations will be missed as these genes are not routinely screened in all newly diagn...

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Literature Corpus work: 5c939784-2ebe-522f-89b9-780c94e94909
DOI: 10.1101/346189

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