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Article

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

American journal of ophthalmology - 1 Mar 2013

Lim Sing-Hui, Tran-Viet Khanh-Nhat, Yanovitch Tammy L, Freedman Sharon F, Klemm Thomas, Call Whitney, Powell Caldwell, Ravichandran Ajay, Metlapally Ravikanth, Nading Erica B, Rozen Steve, Young Terri L

Abstract excerpt

PURPOSE: To screen primary congenital glaucoma patients in the United States for sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole exome sequencing. DESIGN: Retrospective case-control study. METHODS: Fifty-seven primary congenital glaucoma patients (47 families), 71 unaffected family members of the primary congenital glaucoma probands, and 101 healthy unrelated individuals were...

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Identifiers

PMID: 23218701
DOI: 10.1016/j.ajo.2012.09.012
PMCID: PMC3736560

Genes

LTBP2
MYOC

Provenance

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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