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Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families
Molecular Vision, 07/24/09
Khan AO et al. – This first report of p.P23T CRYGD mutation underlying cerulean cataract in the Saudi population strongly supports the mutation’s relation with the phenotype. Coralliform cataract can represent variable expressivity for the same mutation rather than a distinct entity.
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