[HTML][HTML] Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
S Motoda, S Fujita, J Kozawa, T Kimura… - Journal of diabetes …, 2019 - ncbi.nlm.nih.gov
S Motoda, S Fujita, J Kozawa, T Kimura, K Fukui, Y Ikuno, A Imagawa, H Iwahashi…
Journal of diabetes investigation, 2019•ncbi.nlm.nih.govWe 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.
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.
Abstract
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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