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Article

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

Journal of glaucoma - 1 Dec 2016

Grønskov Karen, Redó-Riveiro Alba, Sandfeld Lisbeth, Zibrandtsen Nathalie, Harris Pernille, Bach-Holm Daniella, Tümer Zeynep

Abstract excerpt

PURPOSE OF THE STUDY: Primary congenital glaucoma (PCG OMIM 231300) can be caused by pathogenic sequence variations in cytochrome P450, subfamily 1, polypeptide 1 (CYP1B1). The purpose of this study was to investigate the contribution of sequence variations in CYP1B1 in a cohort of individuals with PCG residing in Denmark. METHODS: The study included 37 unrelated individuals with PCG. Individuals were...

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Identifiers

PMID: 27820421
DOI: 10.1097/IJG.0000000000000581

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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