Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.
Goolam S, Carstens N, Ross M, Bentley D, Lopes M, Peden J, Kingsbury Z, Tsogka E, Barlow R, Carmichael TR, Ramsay M, Williams SE. Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. Mol Vis. 2018; 24:407-413.