title: Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.
authors.affiliation: Department of Pediatrics, Mie Prefectural General Medical Center, Mie, Japan.
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Itoh
authors.affiliation: Department of Dermatology, Mie Prefectural General Medical Center, Mie, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kako
authors.affiliation: Department of Pediatrics, Mie Prefectural General Medical Center, Mie, Japan.
authors.forename: Naofumi
authors.initials: N
authors.lastname: Suzuki
authors.affiliation: Department of Pediatrics, Mie Prefectural General Medical Center, Mie, Japan.
authors.forename: Naoto
authors.initials: N
authors.lastname: Sakurai
authors.affiliation: Department of Pediatrics, Mie Prefectural General Medical Center, Mie, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugiyama
authors.affiliation: Department of Dermatology, Hyogo College of Medicine, Hyogo, Japan.
authors.forename: Kiyofumi
authors.initials: K
authors.lastname: Yamanishi
mesh_terms: D044466:Asian People / Q000235:genetics; D017809:Fatal Outcome; D006720:Homozygote; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009154:Mutation; D056770:Netherton Syndrome / Q000235:genetics*; D010641:Phenotype; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics*; D000074163:Serine Peptidase Inhibitor Kazal-Type 5
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5