Case Report: The importance of genetic counseling for families with hyperinsulinism

Case Report: The importance of genetic counseling for families with hyperinsulinism

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients. Understanding the genetic etiology also allows accurate genetic counseling to be provided, illustrated by two families following...

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Bibliographic Details
Main Authors: Victoria R. Sanders, Katherine Lord, Winnie M. Sigal, Heather McKnight, N. Scott Adzick, Lisa J. States, Tricia Bhatti, Diva D. De Leon
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pediatrics
Subjects:
hyperinsulinism
genetic counseling
carrier testing
ABCC8
recurrence risk
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1520871/full
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https://www.frontiersin.org/articles/10.3389/fped.2024.1520871/full

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