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Article

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

European journal of human genetics : EJHG - 1 Jul 2014

Prokudin Ivan, Simons Cas, Grigg John R, Storen Rebecca, Kumar Vikrant, Phua Zai Y, Smith James, Flaherty Maree, Davila Sonia, Jamieson Robyn V

Abstract excerpt

Developmental eye diseases, including cataract/microcornea, Peters anomaly and coloboma/microphthalmia/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye. All modes of Mendelian inheritance occur and many are sporadic cases, so provision of accurate recurrence risk information for families and affected individuals is highly challenging. Extreme...

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Source

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Identifiers

PMID: 24281366
DOI: 10.1038/ejhg.2013.268
PMCID: PMC4060118

Genes

CRYGC
GJA8
PAX6
ABCB6
GDF3

Provenance

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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