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Article

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.

Clinical genetics - 1 Mar 2020

Reis Linda M, Houssin Nathalie S, Zamora Carlos, Abdul-Rahman Omar, Kalish Jennifer M, Zackai Elaine H, Plageman Timothy F, Semina Elena V

Abstract excerpt

Peters anomaly (PA) is a congenital corneal opacity associated with corneo-lenticular attachments. PA can be isolated or part of a syndrome with most cases remaining genetically unsolved. Exome sequencing of a trio with syndromic PA and 145 additional unexplained probands with developmental ocular conditions identified a de novo splicing and three novel missense heterozygous CDH2 variants affecting the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31650526
DOI: 10.1111/cge.13660
PMCID: PMC7028510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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