KEGG   VARIANT: 2316v2
Entry
2316v2                      Variant                                
Name
FLNA gain-of-function mutation
Type
Gain of function
Gene
FLNA  filamin A [KO:K04437]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300017
Network
nt06548  Integrin signaling
Disease
H00456  Fronto-otopalatodigital syndromes
H02227  Frontometaphyseal dysplasia
Reference
PMID:12612583
  Authors
Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO
  Title
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
  Journal
Nat Genet 33:487-91 (2003)
DOI:10.1038/ng1119
LinkDB

DBGET integrated database retrieval system