CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Glaucoma"
DOI: 10.1097/ijg.0000000000001132
Abstract: Purpose: To identify variants in the CYP1B1 gene in northeastern Brazilian patients with primary congenital glaucoma (PCG) and possible genotype-phenotype correlations. Materials and Methods: This is a cross-sectional observational study of 17 nonrelated patients with… read more here.
Keywords: cyp1b1 gene; gene; primary congenital; congenital glaucoma ... See more keywords
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma
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DOI: 10.1371/journal.pone.0274335
Abstract: Background Primary congenital glaucoma (PCG) is a heterogeneous rare recessively inherited disorder prevalent in regions with high consanguinity. Disease phenotype is associated with increased intra ocular pressure and is a major cause of childhood blindness.… read more here.
Keywords: causing variants; disease; pcg; cyp1b1 gene ... See more keywords
Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2019.06.05
Abstract: AIM To identify the novel mutation alleles in the CYP1B1 gene of primary congenital glaucoma (PCG) patients at Shandong Province of China, and investigate their correlation with glaucomatous features. METHODS The DNA from the peripheral… read more here.
Keywords: congenital glaucoma; cyp1b1 gene; primary congenital; gene ... See more keywords