KEGG   VARIANT: 2317v1
Entry
2317v1                      Variant                                
Name
FLNB mutation
Type
Loss of function
Gene
FLNB  filamin B [KO:K27392]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603381
Network
nt06548  Integrin signaling
Disease
H00499  Spondylocarpotarsal synostosis syndrome
Reference
  Authors
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH
  Title
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
  Journal
Nat Genet 36:405-10 (2004)
DOI:10.1038/ng1319
Reference
  Authors
Salian S, Shukla A, Shah H, Bhat SN, Bhat VR, Nampoothiri S, Shenoy R, Phadke SR, Hariharan SV, Girisha KM
  Title
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
  Journal
Clin Genet 94:159-164 (2018)
DOI:10.1111/cge.13252
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