Articles with "cyp1b1 mutational" as a keyword



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CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients

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Published in 2017 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2016.1188121

Abstract: Primary congenital glaucoma (PCG) is a rare and severe autosomal recessive disease, characterized by high intraocular pressure during the neonatal or early infantile period. If undetected and timel... read more here.

Keywords: congenital glaucoma; mutational screening; primary congenital; screening portuguese ... See more keywords