Condition: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
rs80358191
in
COL8A2
gene and
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
PMID 11689488
2001 Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.