A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J Med Genet. 2004 Aug;41(8):e106. Erratum in: J Med Genet. 2005 Mar;42(3):288. J Med Genet. 2008 Apr;45(4):256.