Condition: Corneal dystrophy, Fuchs' endothelial, 1
rs369487110
in
COL8A2
gene and
Corneal dystrophy, Fuchs' endothelial, 1
PMID 11689488
2001 Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.