title: Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.forename: Takuya
authors.initials: T
authors.lastname: Takeichi
authors.forename: Kana
authors.initials: K
authors.lastname: Tanahashi
authors.forename: Yasutomo
authors.initials: Y
authors.lastname: Ito
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Ken
authors.initials: K
authors.lastname: Saida
authors.forename: Hisashi
authors.initials: H
authors.lastname: Uhara
authors.forename: Ryuhei
authors.initials: R
authors.lastname: Okuyama
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D044466:Asian People; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics* / Q000502:physiology*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000208:ethnology / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000208:ethnology / Q000235:genetics*; D007564:Japan; D020125:Mutation, Missense; D010641:Phenotype; D017422:Sequence Analysis, DNA; D012867:Skin / Q000473:pathology*
chemical_list: D003577:Cytochrome P-450 Enzyme System; C559989:CYP4F22 protein, human
keywords: CYP4F22; Collodion baby; Compound heterozygous mutations; Japanese; Lamellar ichthyosis; Outside Mediterranean