Associated Papers
Genetic variants in PIKFYVE: A review of ocular phenotypes.
Misaghi E et al.
Experimental Eye Research, 2025
Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene.
de J López-Rodríguez VR et al.
Ophthalmic Genetics, 2024
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1
Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.
Gee JA et al.
Molecular Vision, 2015
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.
Kawasaki S et al.
Molecular Vision, 2012
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.
Li S et al.
American Journal of Human Genetics, 2005
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