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

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 m...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504905/
https://www.ncbi.nlm.nih.gov/pubmed/33721395
http://dx.doi.org/10.1111/jdi.13545

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504905/
https://www.ncbi.nlm.nih.gov/pubmed/33721395
http://dx.doi.org/10.1111/jdi.13545

Ejemplares similares