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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2025-04-01
Цуврал:	Frontiers in Endocrinology
Нөхцлүүд:	monogenic diabetes GCK-MODY glucokinase screening atypical symptoms
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fendo.2025.1549279/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!