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Article

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

Journal of diabetes investigation - 1 Mar 2019

Motoda Saori, Fujita Shingo, Kozawa Junji, Kimura Takekazu, Fukui Kenji, Ikuno Yasushi, Imagawa Akihisa, Iwahashi Hiromi, Shimomura Iichiro

Abstract excerpt

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.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 30151985
DOI: 10.1111/jdi.12902
PMCID: PMC6400195

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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