KEGG   VARIANT: 4920v1
Entry
4920v1                      Variant                                
Name
ROR2 mutation
Type
Loss of function
Gene
ROR2  receptor tyrosine kinase like orphan receptor 2 [KO:K05123]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602337
Network
nt06505  WNT signaling
Disease
H00482  Brachydactyly
H00485  Robinow syndrome
Reference
  Authors
Curto J, Del Valle-Perez B, Villarroel A, Fuertes G, Vinyoles M, Pena R, Garcia de Herreros A, Dunach M
  Title
CK1epsilon and p120-catenin control Ror2 function in noncanonical Wnt signaling.
  Journal
Mol Oncol 12:611-629 (2018)
DOI:10.1002/1878-0261.12184
Reference
  Authors
Wang B, Sinha T, Jiao K, Serra R, Wang J
  Title
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.
  Journal
Hum Mol Genet 20:271-85 (2011)
DOI:10.1093/hmg/ddq462
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