Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7

Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7

Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-year-old man with hypoglycemia. We diagnosed him w...

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Main Authors: Takashi Shoji, Ichiro Yamauchi, Hidenori Kawasaki, Kogoro Iwanaga, Takuro Hakata, Daisuke Tanaka, Junji Fujikura, Toshihiko Masui, Hisato Suzuki, Mamiko Yamada, Kenjiro Kosaki, Yosuke Kasai, Etsuro Hatano, Akira Inaba, Takahito Wada, Shinji Kosugi, Yohei Ueda, Toshihito Fujii, Daisuke Taura, Nobuya Inagaki
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Endocrinology
Subjects:
nesidioblastosis
Silver-Russell Syndrome
hyperinsulinemic hypoglycemia
chromosome 7
glucokinase
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1431547/full
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https://www.frontiersin.org/articles/10.3389/fendo.2024.1431547/full

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