title: De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
authors.forename: B
authors.initials: B
authors.lastname: Drera
authors.forename: G
authors.initials: G
authors.lastname: Tadini
authors.forename: F
authors.initials: F
authors.lastname: Balbo
authors.forename: L
authors.initials: L
authors.lastname: Marchese
authors.forename: S
authors.initials: S
authors.lastname: Barlati
authors.forename: M
authors.initials: M
authors.lastname: Colombi
mesh_terms: 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*
chemical_list: D008565:Membrane Proteins; C064554:loricrin