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Article

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Human genetics - 1 Nov 2008

Burdon Kathryn P, Coster Douglas J, Charlesworth Jac C, Mills Richard A, Laurie Kate J, Giunta Cecilia, Hewitt Alex W, Latimer Paul, Craig Jamie E

Abstract excerpt

Keratoconus is a debilitating ocular disease characterised by progressive asymmetrical thinning of the cornea, the clear covering at the front of the eye. The resulting protrusion of the cornea results in severe refractive error, in the most severe cases requiring corneal grafting. It is a comple...

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Source

Identifiers

PMID: 18795334
DOI: 10.1007/s00439-008-0555-z

Genes

CTNNBIP1
ENO1
PLOD1
SPSB1
UBIAD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18795334-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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