Metabolic and neuroactivity imbalances in plasma from aniridia patients with <i>PAX6</i> haploinsufficiency

Abstract excerpt

PAX6 is a transcription factor crucial for the development of the eye, pancreas, and brain. Heterozygous variants resulting in PAX6 haploinsufficiency are the main genetic cause of congenital aniridia, characterized by both anterior and posterior ocular defects and sight loss. The extra-ocular features of PAX6 haploinsufficiency are becoming more widely recognised, with systemic manifestations like obesity, diab...

Topics

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• Age Factors
• Consensus
• Diet and metabolism studies
• Diet, Metabolism, and Disease
• Genetic Predisposition to Disease
• Metabolism, Inborn Errors
• Neonatal Screening
• Phenotype

Identifiers and source

Literature Corpus work

68c0a9c1-e44d-52da-8c26-766e095dfd97

DOI

10.1101/2024.11.07.622475