PAX6

A rare PAX6 mutation in a Chinese family with congenital aniridia

F. He, Liu, D. L., Chen, M. P., Liu, L., Lu, L., Ouyang, M., Yang, J., Gan, R., and Liu, X. Y., A rare PAX6 mutation in a Chinese family with congenital aniridia, vol. 14, pp. 13328-13336, 2015.

Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects.

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