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Article

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

European journal of human genetics : EJHG - 1 Apr 2012

Czugala Marta, Karolak Justyna A, Nowak Dorota M, Polakowski Piotr, Pitarque Jose, Molinari Andrea, Rydzanicz Malgorzata, Bejjani Bassem A, Yue Beatrice Y J T, Szaflik Jacek P, Gajecka Marzena

Abstract excerpt

Keratoconus (KTCN), a non-inflammatory corneal disorder characterized by stromal thinning, represents a major cause of corneal transplantations. Genetic and environmental factors have a role in the etiology of this complex disease. Previously reported linkage analysis revealed that chromosomal region 13q32 is likely to contain causative gene(s) for familial KTCN. Consequently, we have chosen eight positional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22045297
DOI: 10.1038/ejhg.2011.203
PMCID: PMC3306853

Genes

DOCK9
IPO5
STK24
FARP1
MBNL1
ZIC2
ZIC5

Variants

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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