Novel Compound Heterozygous Variants of the <i>ABCC8</i> Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism
Congenital hyperinsulinism (CHI) is characterized by dysregulated insulin secretion, resulting in severe hypoglycemia. Mutations in the <i>ABCC8</i> and <i>KCNJ11</i> genes encoding KATP channels in beta cells of the pancreas are common among patients with CHI. Autosomal rece...
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| Main Authors: | , , , |
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| Format: | Book |
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MDPI AG,
2021-09-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |