Case Report: New insights about clinical manifestations of patients with GCK genetic variants

Case Report: New insights about clinical manifestations of patients with GCK genetic variants

GCK-MODY is a genetic condition characterized by alterations in the GCK gene, which can include several types of inactivating genetic variants - ranging from missense and nonsense variants, and splice site variants, to small and large deletions and insertions in the gene. This disorder primarily aff...

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Main Authors: Ritiele Bastos de Souza, Gabriella de Medeiros Abreu, Marília Chaves Bernardo, Roberta Magalhães Tarantino, Melanie Rodacki, Lenita Zajdenverg, Amanda Ferreira de Andrade, Deborah Snaider Nicolay, Ana Carolina Proença da Fonseca, Kaio Cezar Rodrigues Salum, Renata Szundy Berardo, Jorge Luiz Luescher, Verônica Marques Zembrzuski, Pedro Hernan Cabello, Mario Campos Junior
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Endocrinology
Subjects:
monogenic diabetes
GCK-MODY
glucokinase
screening
atypical symptoms
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1549279/full
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https://www.frontiersin.org/articles/10.3389/fendo.2025.1549279/full

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