title: Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis.
authors.affiliation: IDI-IRCCS Biochemistry Laboratory.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Terrinoni
authors.affiliation: Biomedicine and Prevention laboratory, Tor Vergata University of Rome, Italy.
authors.forename: Emiliano
authors.initials: E
authors.lastname: Giardina
authors.affiliation: Dermatologic Department, S. Andrea Hospital, S. Vercelli, Italy.
authors.forename: Ginevra
authors.initials: G
authors.lastname: Pertusi
authors.affiliation: Biomedicine and Prevention laboratory, Tor Vergata University of Rome, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cascella
authors.affiliation: IDI-IRCCS Biochemistry Laboratory.
authors.forename: Valeria
authors.initials: V
authors.lastname: Serra
authors.affiliation: Clinical and Experimental Medicine Department, University of Piemonte Orientale "A. Avogadro", Novara, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Bornacina
authors.affiliation: IDI-IRCCS Biochemistry Laboratory.
authors.forename: Ramona
authors.initials: R
authors.lastname: Palombo
authors.affiliation: Clinical and Experimental Medicine Department, University of Piemonte Orientale "A. Avogadro", Novara, Italy.
authors.forename: Rossana
authors.initials: R
authors.lastname: Tiberio
authors.affiliation: Dermatologic Department, S. Andrea Hospital, S. Vercelli, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Gattoni
authors.affiliation: National Agency for Evaluation of Universities and Research, Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.affiliation: IDI-IRCCS Biochemistry Laboratory.
authors.forename: Margherita
authors.initials: M
authors.lastname: Annicchiarico-Petruzzelli
authors.affiliation: IDI-IRCCS Biochemistry Laboratory.
authors.forename: Gerry
authors.initials: G
authors.lastname: Melino
authors.affiliation: Clinical and Experimental Medicine Department, University of Piemonte Orientale "A. Avogadro", Novara, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Colombo
mesh_terms: D001483:Base Sequence; D003876:Dermatitis, Atopic / Q000150:complications / Q000175:diagnosis; D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D007223:Infant; D007381:Intermediate Filament Proteins / Q000235:genetics*; D053553:Keratin-6 / Q000235:genetics*; D053549:Pachyonychia Congenita / Q000150:complications / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins; D053553:Keratin-6