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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007070/ https://www.ncbi.nlm.nih.gov/pubmed/24787241 http://dx.doi.org/10.1038/srep04836 |