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.