Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus

We present a case of a novel PAX6 heterozygous mutation with aniridia and insulin‐dependent diabetes mellitus.To the best of our knowledge, this is the first case of its mutation with a complete loss of insulin secretory capacity. We believe that our letter will add new knowledge to diabetes mellitu...

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Detalles Bibliográficos
Autores principales: Motoda, Saori, Fujita, Shingo, Kozawa, Junji, Kimura, Takekazu, Fukui, Kenji, Ikuno, Yasushi, Imagawa, Akihisa, Iwahashi, Hiromi, Shimomura, Iichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400195/
https://www.ncbi.nlm.nih.gov/pubmed/30151985
http://dx.doi.org/10.1111/jdi.12902
Descripción
Sumario:We present a case of a novel PAX6 heterozygous mutation with aniridia and insulin‐dependent diabetes mellitus.To the best of our knowledge, this is the first case of its mutation with a complete loss of insulin secretory capacity. We believe that our letter will add new knowledge to diabetes mellitus associated with PAX6 mutations and might help us to understand the role of PAX6 in beta‐cell development. [Image: see text]

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