title: A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin.
authors.affiliation: Department of Dermatology, Hyogo College of Medicine, 1-1, Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
authors.forename: Minori
authors.initials: M
authors.lastname: Kusakabe
authors.forename: Makoto
authors.initials: M
authors.lastname: Nagai
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakano
authors.forename: Orie
authors.initials: O
authors.lastname: Jitsukawa
authors.forename: Chikako
authors.initials: C
authors.lastname: Nishigori
authors.forename: Kiyofumi
authors.initials: K
authors.lastname: Yamanishi
mesh_terms: D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D005455:Fluorescent Antibody Technique; D020022:Genetic Predisposition to Disease; D005963:Glucosylceramides / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D007564:Japan; D066292:Lipid Droplets / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*; D012867:Skin / Q000378:metabolism / Q000648:ultrastructure
chemical_list: D005963:Glucosylceramides; C499859:NIPAL4 protein, human; D011956:Receptors, Cell Surface