SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus

ABCC8 encodes the SUR-1 subunit of the ATP-sensitive potassium (K-ATP) channel on beta cells. Mutations in this gene are associated with K-ATP channel gain of function (diabetes mellitus) and loss of function (hyperinsulinism). We describe a family with a heterozygous variant of uncertain significan...

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Bibliographic Details
Published in:J Endocr Soc
Main Authors: Ludwig, Karissa, Woodhead, Helen, McGown, Ivan
Format: Artigo
Language:Inglês
Published: Endocrine Society 2019
Subjects:
Pediatric Endocrinology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552806/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-270
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