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Article

Exome-based mutation screening in South African children with primary congenital glaucoma.

Eye (London, England) - 1 Feb 2023

Carstens Nadia, Goolam Saadiah, Hulley Michaella, Brandenburg Jean-Tristan, Ramsay Michele, Williams Susan Eileen Isabella

Abstract excerpt

OBJECTIVES: To identify pathogenic variants in a cohort of 23 black South African children with sporadic primary congenital glaucoma (PCG) using an exome-based approach. METHODS: Children with PCG were recruited from two Paediatric Ophthalmology Clinics in Johannesburg, South Africa. Whole exome sequencing was performed on genomic DNA. Of the 23 children, 19 were male and 19 had bilateral PCG. A variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35094026
DOI: 10.1038/s41433-022-01941-7
PMCID: PMC9873788

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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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