KCNJ11 Mutation in One Family is Associated with Adult-Onset Rather than Neonatal-Onset Diabetes Mellitus

ABSTRACT: Objective: To present a case of adult-onset familial diabetes mellitus in which a genetic etiology typical for neonatal diabetes was identified.Methods: We conducted whole-exome and Sanger sequencing, assessed clinical presentation and family history, and performed a literature review.Resu...

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Main Authors: Emily Breidbart, MD, Lauren Golden, MD, Claudia Gonzaga-Jauregui, PhD, Liyong Deng, MD, Patricia Lanzano, BA, Charles LeDuc, PhD, JianCheng Guo, MD, PhD, John D. Overton, PhD, Jeffery Reid, PhD, Alan Shuldiner, MD, Wendy K. Chung, MD, PhD
Format: Article
Language:English
Published: Elsevier 2018-09-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520301565