A novel RFX6 heterozygous mutation (p.R652X) in maturity‐onset diabetes mellitus: A case report

ABSTRACT Heterozygous RFX6 mutation has emerged as a potential cause of maturity‐onset diabetes mellitus of the young (MODY). A 16‐year‐old female was diagnosed with diabetes by her family doctor and was referred to our institution for genetic examination. Genetic testing revealed a novel RFX6 heter...

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Bibliographic Details
Main Authors: Sakiho Imaki, Katsumi Iizuka, Yukio Horikawa, Megumi Yasuda, Sodai Kubota, Takehiro Kato, Yanyan Liu, Ken Takao, Masami Mizuno, Takuo Hirota, Tetsuya Suwa, Kazuyoshi Hosomichi, Atsushi Tajima, Yuuka Fujiwara, Yuji Yamazaki, Hitoshi Kuwata, Yutaka Seino, Daisuke Yabe
Format: Article
Language:English
Published: Wiley 2021-10-01
Series:Journal of Diabetes Investigation
Subjects:
Online Access:https://doi.org/10.1111/jdi.13545