KEGG   VARIANT: 1001v1
Entry
1001v1                      Variant                                
Name
CDH3 mutation
Type
Loss of function
Gene
CDH3  cadherin-3 isoform 1 preproprotein [KO:K06796]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114021
Network
nt06549  Cadherin signaling
Disease
H00639  Ectodermal dysplasia, ectrodactyly, and macular dystrophy
H00785  Congenital hypotrichosis with juvenile macular dystrophy
Reference
PMID:11544476
  Authors
Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R
  Title
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
  Journal
Nat Genet 29:134-6 (2001)
DOI:10.1038/ng716
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