KEGG   VARIANT: 81607v1
Entry
81607v1                      Variant                               
Name
NECTIN4 mutation
Type
Loss of function
Gene
NECTIN4  nectin cell adhesion molecule 4 [KO:K06593]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609607
Network
nt06546  IgSF CAM signaling
Disease
H00647  Ectodermal dysplasia-syndactyly syndrome
Reference
PMID:24577405
  Authors
Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F
  Title
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
  Journal
J Invest Dermatol 134:2146-2153 (2014)
DOI:10.1038/jid.2014.119
LinkDB

DBGET integrated database retrieval system