A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities
Aniridia is a congenital panocular disorder caused by the mutations of the paired box gene-6 (PAX6). To investigate the clinical characterization and the underlying genetic defect in a Chinese family with aniridia and other ocular abnormalities, we recruited the family members who underwent ophthalm...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Nature Publishing Group
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007070/ |