A rare PAX6 mutation in a Chinese family with congenital aniridia
“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.