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Aim
PAX6 is a transcription factor involved in embryonic development of many organs, including the eyes and the pancreas. Mutations of PAX6 gene is the main cause of a rare disease, congenital aniridia (CA). This case–control study aims to investigate the effects of PAX6 mutations on glucose metabolism and insulin secretion in families with CA.
Methods
In all, 21 families with CA were screened...
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