KEGG   VARIANT: 4087v2
Entry
4087v2                      Variant                                
Name
SMAD2 mutation
Type
Loss of function
Gene
SMAD2  SMAD family member 2 [KO:K04500]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601366
Network
nt06507  TGFB signaling
Disease
H00800  Loeys-Dietz syndrome
Reference
  Authors
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chenier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B
  Title
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
  Journal
J Med Genet 56:220-227 (2019)
DOI:10.1136/jmedgenet-2018-105304
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