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Article

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

Journal of diabetes investigation - 1 Oct 2021

Imaki Sakiho, Iizuka Katsumi, Horikawa Yukio, Yasuda Megumi, Kubota Sodai, Kato Takehiro, Liu Yanyan, Takao Ken, Mizuno Masami, Hirota Takuo, Suwa Tetsuya, Hosomichi Kazuyoshi, Tajima Atsushi, Fujiwara Yuuka, Yamazaki Yuji, Kuwata Hitoshi, Seino Yutaka, Yabe Daisuke

Abstract excerpt

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 heterozygous mutation (NM_173560: exon17: c.1954C>T: p.R652X) in the patient and in her mother and brother. She had no...

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Identifiers

PMID: 33721395
DOI: 10.1111/jdi.13545
PMCID: PMC8504905

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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