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...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianfu, Chen, Xiaole, Tan, Zhihua, Zhu, Yihua, Zhao, Kanxing, Yang, Juhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007070/
https://www.ncbi.nlm.nih.gov/pubmed/24787241
http://dx.doi.org/10.1038/srep04836

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