title: A new SPINK5 mutation in a patient with Netherton syndrome: a case report.
abstract: We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase.
authors.affiliation: Department of Pediatrics, Institute Giannina Gaslini IRCCS, Genoa, Italy. gianninaalpigiani@ospedale-gaslini.ge.it
authors.forename: Maria G
authors.initials: MG
authors.lastname: Alpigiani
authors.forename: Pietro
authors.initials: P
authors.lastname: Salvati
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Schiaffino
authors.forename: Corrado
authors.initials: C
authors.lastname: Occella
authors.forename: Daniela
authors.initials: D
authors.lastname: Castiglia
authors.forename: Claudia
authors.initials: C
authors.lastname: Covaciu
authors.forename: Renata
authors.initials: R
authors.lastname: Lorini
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D019066:Facies; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D008297:Male; D056770:Netherton Syndrome / Q000235:genetics*; D017354:Point Mutation; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics*; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D055815:Young Adult
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5