Condition: FRASER SYNDROME 2
rs114837786
in
FREM2
gene and
FRASER SYNDROME 2
PMID 15838507
2005 Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
PMID 29688405
2018 A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
PMID 30802441
2019 Loss-of-function mutations in FREM2 disrupt eye morphogenesis.