Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

BackgroundThe focal form of CHI is caused by an autosomal recessive pathogenic variant affecting the paternal homologue of genes ABCC8 or KCNJ11 and a second somatic event specifically occurring in the affected islet of Langerhans. The approach of this study was to integrate the genetic changes occu...

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Bibliographic Details
Main Authors: Ilse Wieland, Ina Schanze, Ina Marianti Felgendreher, Winfried Barthlen, Silke Vogelgesang, Klaus Mohnike, Martin Zenker
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Endocrinology
Subjects:
ABCC8
Achaete-scute complex homolog 2
CHI
KCNJ11
UPD 11p
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.1015244/full

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