Associated Papers
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.
Ruiz Guijosa A et al.
Ophthalmic Genetics, 2024
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
38755526 (PubMed )
Supplement: 12864_2024_10353_MOESM1_ESM.xlsx › S3._Solved_cases
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
Grønskov K et al.
Journal of Glaucoma, 2016
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.
Simões MJ et al.
Ophthalmic Genetics, 0
Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.
Rodrigues R et al.
Ophthalmology. Glaucoma, 0
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