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Article

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Clinical genetics - 1 Oct 2016

Reis L M, Tyler R C, Weh E, Hendee K E, Schilter K F, Phillips J A, Sequeira S, Schinzel A, Semina E V

Abstract excerpt

The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (WES) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three probands; in two of these, a combination of two Mendelian disorders was found to completely explain the patients' features whereas in the third case only the ocular...

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Source

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Identifiers

PMID: 27272408
DOI: 10.1111/cge.12816
PMCID: PMC5295561

Genes

FOXC1
NPHS1

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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