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Article

Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics.

American journal of ophthalmology - 1 Dec 2006

Hollander David A, Sarfarazi Mansoor, Stoilov Ivaylo, Wood Irmgard S, Fredrick Douglas R, Alvarado Jorge A

Abstract excerpt

PURPOSE: To determine whether there is a correlation among mutations in the cytochrome P4501B1 gene (CYP1B1), the degree of angle dysgenesis observed histologically, and disease severity in congenital glaucoma. DESIGN: Interventional case series. METHODS: Direct DNA sequencing was used to screen six unrelated children with congenital glaucoma, each set of parents, and all siblings for CYP1B1 mutations. Specimens...

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Identifiers

PMID: 17157584
DOI: 10.1016/j.ajo.2006.07.054

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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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