title: Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
authors.affiliation: Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, U.K.
authors.forename: E
authors.initials: E
authors.lastname: Pohler
authors.affiliation: Department of Dermatology, University Hospital Crosshouse, Kilmarnock Road, Kilmarnock, KA2 0BE, U.K.
authors.forename: F
authors.initials: F
authors.lastname: Cunningham
authors.affiliation: Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, U.K.
authors.forename: A
authors.initials: A
authors.lastname: Sandilands
authors.affiliation: Division of Computational Biology, College of Life Sciences, University of Dundee, U.K.
authors.forename: C
authors.initials: C
authors.lastname: Cole
authors.affiliation: Department of Pathology, Southern General Hospital, Glasgow, U.K.
authors.forename: S
authors.initials: S
authors.lastname: Digby
authors.affiliation: EB Laboratory, Viapath LLP, St Thomas' Hospital, London Group, King's College London (Guy's Campus), London, U.K.
authors.forename: J R
authors.initials: JR
authors.lastname: McMillan
authors.affiliation: EB Laboratory, Viapath LLP, St Thomas' Hospital, London Group, King's College London (Guy's Campus), London, U.K.
authors.forename: S
authors.initials: S
authors.lastname: Aristodemou
authors.affiliation: Department of Cell Pathology, St John's Institute of Dermatology, St. Thomas' Hospital, London, U.K.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, U.K.
authors.forename: F J D
authors.initials: FJ
authors.lastname: Smith
authors.affiliation: Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, U.K.
authors.forename: W H I
authors.initials: WH
authors.lastname: McLean
authors.affiliation: Alan Lyell Centre for Dermatology, Southern General Hospital, Glasgow, U.K.
authors.forename: C S
authors.initials: CS
authors.lastname: Munro
authors.affiliation: Department of Dermatology, University Hospital Crosshouse, Kilmarnock Road, Kilmarnock, KA2 0BE, U.K.|Alan Lyell Centre for Dermatology, Southern General Hospital, Glasgow, U.K.
authors.forename: M
authors.initials: M
authors.lastname: Zamiri
mesh_terms: D000293:Adolescent; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; C064554:loricrin