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Article

LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.

Ophthalmic genetics - 1 Jan 2000

Sharafieh Roshanak, Child Anne H, Khaw Peng T, Fleck Brian, Sarfarazi Mansoor

Abstract excerpt

PURPOSE: Primary congenital glaucoma (isolated trabeculodysgensis, PCG) generally presents between birth and 3 years of age. Recently, mutations in Latent Transforming Growth Factor (TGF)-beta Binding Protein 2 (LTBP2) have been reported in several families that were diagnosed with PCG, who actually had a more complex ocular phenotype with ectopia lentis and Marfanoid features. We screened this gene for mutations...

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Source

Identifiers

PMID: 22924778
DOI: 10.3109/13816810.2012.716486

Genes

LTBP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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