title: A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B.
authors.affiliation: Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.
authors.forename: P J
authors.initials: PJ
authors.lastname: Bland
authors.affiliation: Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.
authors.forename: C
authors.initials: C
authors.lastname: Chronnell
authors.affiliation: Department of Genetics, University College London, London, U.K.
authors.forename: V
authors.initials: V
authors.lastname: Plagnol
authors.affiliation: Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet cad, 34093, Fatih Istanbul, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Kayserili
authors.affiliation: Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D001092:Arachidonate 12-Lipoxygenase / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D007223:Infant; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype
chemical_list: C514086:ALOX12B protein, human; D001092:Arachidonate 12-Lipoxygenase