Article
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Molecular genetics and metabolism - 1 Dec 2014
Alkorta-Aranburu G, Carmody D, Cheng Y W, Nelakuditi V, Ma L, Dickens Jazzmyne T, Das S, Greeley S A W, Del Gaudio D
Abstract excerpt
Single gene mutations that primarily affect pancreatic β-cell function account for approximately 1-2% of all cases of diabetes. Overlapping clinical features with common forms of diabetes makes diagnosis of monogenic diabetes challenging. A genetic diagnosis often leads to significant alterations in treatment, allows better prediction of disease prognosis and progression, and has implications for family members....
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