Condition: FOVEAL HYPOPLASIA 1
rs121907918
in
PAX6
gene and
FOVEAL HYPOPLASIA 1
PMID 8640214
1996 PAX6 missense mutation in isolated foveal hypoplasia.
PMID 9931324
1999 Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.