(1997). Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet
(2011). Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene. Zhonghua Molecular Vision
(2007). Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet
(2004). bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).
(2007). Characterization of a familial t(16,22) balanced translocation associated with congenital cataract leads to identification of a novel gene TMEM114 expressed in the lens and disrupted by the translocation. Hum Mutat
(2007). CHMP4B a novel gene for autosomal dominant cataracts linked to chromosome 20q.
(2007). Connexin and pannexin mediated cell-cell communication. Neuron Glia Biol
(2004). Connexin disorders of the ear, skin, and lens. Biochim Biophys Acta
(2006). CRYBA4 a novel human cataract gene is also involved in microphthalmia.
(1998). Diverse functions of vertebrate gap junctions. Trends Cell Biol
(2002). Domain disruption and mutation of the Bzip transcription factor MAF associated with cataract ocular anterior segment dysgenesis and coloboma. Hum Mol Genet
(2000). Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet