First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications

CONTEXT: The PDX1 gene encodes pancreatic and duodenal homeobox, a critical transcription factor for pancreatic β-cell differentiation and maintenance of mature β-cells. Heterozygous loss-of-function mutations cause PDX1-MODY (MODY4). CASE DESCRIPTION: Our patient is an 18-year-old lean man who deve...

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Detalles Bibliográficos
Autores principales: Yoshiji, Satoshi, Horikawa, Yukio, Kubota, Sodai, Enya, Mayumi, Iwasaki, Yorihiro, Keidai, Yamato, Aizawa-Abe, Megumi, Iwasaki, Kanako, Honjo, Sachiko, Hosomichi, Kazuyoshi, Yabe, Daisuke, Hamasaki, Akihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8714237/
https://www.ncbi.nlm.nih.gov/pubmed/34988346
http://dx.doi.org/10.1210/jendso/bvab159

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