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See Latest ArticlesVariable Expressivity and High Penetrance of CYP1B1 Mutations Associated with Primary Congenital Glaucoma
Ophthalmology, 09/11/09
Suri F et al. – These findings suggest that "affected CYP1B1 genotypes" exhibit variable expressivity rather than nonpenetrance. The clinical implication of this observation is that seemingly unaffected relatives of patients with PCG, particularly those known to harbor CYP1B1 mutations, should undergo regular ophthalmologic examination to allow early diagnosis.
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