A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
Monia
M
Kharfi
Nadia
N
El Fekih
Donia
D
Ammar
Habib
H
Jaafoura
Susanne
S
Schwonbeck
Maurice A M
MA
van Steensel
Bécima
B
Fazaa
Mohamed Ridha
MR
Kamoun
Judith
J
Fischer
D002675:Child, Preschool; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D013577:Syndrome; D011503:Transglutaminases / Q000737:chemistry / Q000235:genetics*; D014416:Tunisia
C418703:transglutaminase 5; D011503:Transglutaminases