GJA3
MIM.121015 13q11
GJA3 (connexin-46) (MIM.121015)
Pathology
germline mutations in autosomal dominant zonular pulverulent cataract-3 (CZP3) (MIM.601885)
References
Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet. 1999 May;64(5):1357-64. PMID: #10205266#