LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

Abstract

Primary congenital glaucoma (PCG) is a genetically heterogeneous autosomal recessive disorder, which is an important cause of blindness in childhood. The first known gene, CYP1B1, accounts for a variable proportion of cases in most populations. A second gene, LTBP2, was recently reported in association with a syndrome, in which glaucoma is secondary to lens… (More)
DOI: 10.1038/ejhg.2010.181

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