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Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism

8 Oct 2024

Abstract excerpt

CONTEXT: Some children with diazoxide-unresponsive congenital hyperinsulinism (HI) lack any detectable disease-causing mutation in peripheral-blood DNA. OBJECTIVE: This work aimed to examine whether somatic postzygotic mutations of known HI genes are responsible for disease in children with diazoxide-unresponsive HI requiring surgery with histology not classified as focal or localized islet nuclear enlargement...

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PMID: 39382384
DOI: 10.1210/clinem/dgae713

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