[Clinical features and genetic analysis for PAX6-associated ocular diseases]

Y M Li1, L Z Yang1, R F Sui1

  • 1Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China.

Summary

This study analyzed genetic and clinical data from 40 patients with PAX6-associated ocular diseases (PAOD), identifying common features like foveal hypoplasia and congenital aniridia. Findings expand understanding of PAOD

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