De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
Drera
B
B
Tadini
G
G
Balbo
F
F
Marchese
L
L
Barlati
S
S
Colombi
M
M
D005192:Family Health; D016368:Frameshift Mutation; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007558:Italy; D007642:Keratosis; D008565:Membrane Proteins / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics*
D008565:Membrane Proteins; C064554:loricrin