title: Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.|St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.
authors.forename: T
authors.identifier: 0000-0001-5958-2875
authors.initials: T
authors.lastname: Takeichi
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nomura
authors.affiliation: Department of Dermatology, Aichi Medical University, Nagakute, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Takama
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: M
authors.identifier: 0000-0003-2639-1583
authors.initials: M
authors.lastname: Kono
authors.affiliation: Department of Dermatology, Fujita Health University School of Medicine, Toyoake, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sugiura
authors.affiliation: Department of Dermatology, Aichi Medical University, Nagakute, Japan.
authors.forename: D
authors.initials: D
authors.lastname: Watanabe
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.affiliation: Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, U.K.
authors.forename: M A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D000368:Aged; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D010088:Oxidoreductases; C471160:SDR9C7 protein, human