KEGG   VARIANT: 341640v1
Entry
341640v1                      Variant                              
Name
FREM2 mutation
Type
Loss of function
Gene
FREM2  FRAS1 related extracellular matrix 2 [KO:K23380]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608945
Network
nt06548  Integrin signaling
Disease
H00687  Fraser syndrome
H02852  Unilateral or bilateral isolated cryptophthalmos
Reference
PMID:18203166
  Authors
Shafeghati Y, Kniepert A, Vakili G, Zenker M
  Title
Fraser syndrome due to homozygosity for a splice site mutation of FREM2.
  Journal
Am J Med Genet A 146A:529-31 (2008)
DOI:10.1002/ajmg.a.32091
Reference
PMID:30802441
  Authors
Zhang X, Wang D, Dongye M, Zhu Y, Chen C, Wang R, Long E, Liu Z, Wu X, Lin D, Chen J, Lin Z, Wang J, Li W, Li Y, Li D, Lin H
  Title
Loss-of-function mutations in FREM2 disrupt eye morphogenesis.
  Journal
Exp Eye Res 181:302-312 (2019)
DOI:10.1016/j.exer.2019.02.013
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