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Article

CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma.

European journal of ophthalmology - 1 Jan 2000

Cardoso Mariana S, Anjos Rita, Vieira Luísa, Ferreira Cristina, Xavier Ana, Brito Cristina

Abstract excerpt

PURPOSE: To investigate the prevalence of CYP1B1 mutations in Portuguese children with primary congenital glaucoma (PCG) and to study the possible correlations between the mutation status and clinical features of the disease. METHODS: DNA sequencing analysis of the CYP1B1 gene was used to screen 21 children with PCG followed on Paediatric Ophthalmology and Medical Genetics consultations at D. Estefânia's Hospital...

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PMID: 25952714
DOI: 10.5301/ejo.5000618

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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