KEGG   VARIANT: 147409v1
Entry
147409v1                      Variant                              
Name
DSG4 mutation
Type
Loss of function
Gene
DSG4  desmoglein 4 [KO:K07599]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607892
Network
nt06545  Cornified envelope formation
Disease
H00784  Localized autosomal recessive hypotrichosis
Reference
PMID:16543896
  Authors
Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM
  Title
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.
  Journal
J Invest Dermatol 126:1286-91 (2006)
DOI:10.1038/sj.jid.5700237
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