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Article

Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.

Cornea - 1 Feb 2024

Franco Elena, Gagrani Meghal, Scanga Hannah L, Areaux Raymond G, Chu Charleen T, Nischal Ken K

Abstract excerpt

PURPOSE: The aim of this study is to describe the variable phenotype of congenital corneal opacities occurring in patients with biallelic CYP1B1 pathogenic variants. METHODS: A retrospective chart review was conducted to identify patients with congenital corneal opacities and CYP1B1 pathogenic variants seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, anterior...

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Identifiers

PMID: 37788597
DOI: 10.1097/ICO.0000000000003395
PMCID: PMC10840913

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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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