title: Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome.
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Sanae
authors.initials: S
authors.lastname: Numata
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan. Electronic address: hamataka@med.kurume-u.ac.jp.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Kwesi
authors.initials: K
authors.lastname: Teye
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Matsuda
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Norito
authors.initials: N
authors.lastname: Ishii
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Karashima
authors.affiliation: Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kabashima
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Minao
authors.initials: M
authors.lastname: Furumura
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
authors.forename: Chika
authors.initials: C
authors.lastname: Ohata
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan. Electronic address: hashimot@med.kurume-u.ac.jp.
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D044466:Asian People / Q000235:genetics*; D002648:Child; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D009030:Mosaicism; D009035:Mothers; D056770:Netherton Syndrome / Q000235:genetics* / Q000473:pathology; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D014314:Trisomy / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5
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