Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Loading...
Thumbnail Image
Authors
Houghton, Jayne A. L.
Journal
Clinical Case Reports
Type
Case Report
Publisher
Wiley
Rights
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
CC0 1.0 Universal
Advances in genomics and 18F-DOPA PET-CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic counseling and provides a more accurate recurrence risk to families.
Citation
Joyce CM et al. Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism. Clin Case Rep. 2020 Apr 23;8(7):1217-1222.
Note
This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.