Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.
Stéphane
S
Boulé
Veronique
V
Fressart
Daniela
D
Laux
Audrey
A
Mallet
Francoise
F
Simon
Pascal
P
de Groote
Damien
D
Bonnet
Didier
D
Klug
Philippe
P
Charron
D000328:Adult; D000848:Anodontia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002311:Cardiomyopathy, Dilated; D002648:Child; D051180:Desmoplakins / Q000235:genetics*; D005799:Genes, Dominant; D006201:Hair Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017496:Hypopigmentation / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009260:Nail Diseases / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype
D051180:Desmoplakins