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Article

Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma.

Ophthalmology - 1 Nov 2009

Suri Fatemeh, Yazdani Shahin, Narooie-Nejhad Mehrnaz, Zargar Seyed Jalal, Paylakhi Seyed Hassan, Zeinali Sirous, Pakravan Mohammad, Elahi Elahe

Abstract excerpt

OBJECTIVE: To investigate penetrance and expressivity of CYP1B1 genotypes associated with primary congenital glaucoma (PCG). DESIGN: Observational case series, systematic review, and comparative analysis of the literature. PARTICIPANTS: Forty probands affected with PCG, 16 siblings affected with PCG, and 103 siblings and 75 parents of the probands reported not to be affected by history. The participants were...

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Identifiers

PMID: 19744731
DOI: 10.1016/j.ophtha.2009.04.045

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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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