Identification of an p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family

The diagnosis of maturity onset diabetes of the young (MODY) is a challenging process in view of the extensive clinical and genetic heterogeneity of the disease. Mutations in the gene encoding hepatocyte nuclear factor 1α ( HNF1A ) are responsible for most forms of monogenic diabetes in Northern Eur...

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Bibliographic Details
Main Authors: Nikolai Paul Pace, Christopher Rizzo, Alexia Abela, Mark Gruppetta, Stephen Fava, Alex Felice, Josanne Vassallo
Format: Article
Language:English
Published: SAGE Publishing 2019-02-01
Series:Clinical Medicine Insights: Case Reports
Online Access:https://doi.org/10.1177/1179547619831034