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Article

Whole exome sequence analysis of Peters anomaly.

Human genetics - 1 Dec 2014

Weh Eric, Reis Linda M, Happ Hannah C, Levin Alex V, Wheeler Patricia G, David Karen L, Carney Erin, Angle Brad, Hauser Natalie, Semina Elena V

Abstract excerpt

Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently known ocular genes. Among the eight previously recognized...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25182519
DOI: 10.1007/s00439-014-1481-x
PMCID: PMC4395516

Genes

FLNA
HCCS
NDP
PAX6

Variants

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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