Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

Pohler, E; Cunningham, F; Sandilands, A; Cole, C; Digby, S; McMillan, J R; Aristodemou, S; McGrath, J A; Smith, F J D; McLean, W H I; Munro, C S; Zamiri, M

Pohler, E; Cunningham, F; Sandilands, A; Cole, C; Digby, S; McMillan, J R; Aristodemou, S; McGrath, J A; Smith, F J D; McLean, W H I; Munro, C S; Zamiri, M.

Afiliación

Pohler E; Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, U.K.
Cunningham F; Department of Dermatology, University Hospital Crosshouse, Kilmarnock Road, Kilmarnock, KA2 0BE, U.K.
Sandilands A; Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, U.K.
Cole C; Division of Computational Biology, College of Life Sciences, University of Dundee, U.K.
Digby S; Department of Pathology, Southern General Hospital, Glasgow, U.K.
McMillan JR; EB Laboratory, Viapath LLP, St Thomas' Hospital, London Group, King's College London (Guy's Campus), London, U.K.
Aristodemou S; EB Laboratory, Viapath LLP, St Thomas' Hospital, London Group, King's College London (Guy's Campus), London, U.K.
McGrath JA; Department of Cell Pathology, St John's Institute of Dermatology, St. Thomas' Hospital, London, U.K.
Smith FJ; Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, U.K.
McLean WH; Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, U.K.
Munro CS; Alan Lyell Centre for Dermatology, Southern General Hospital, Glasgow, U.K.
Zamiri M; Department of Dermatology, University Hospital Crosshouse, Kilmarnock Road, Kilmarnock, KA2 0BE, U.K.

Br J Dermatol ; 173(5): 1291-4, 2015 Nov.

Article en En | MEDLINE | ID: mdl-25965869

Asunto(s)

Mutación del Sistema de Lectura/genética; Ictiosis Lamelar/genética; Queratodermia Palmoplantar/genética; Proteínas de la Membrana/genética; Adolescente; Femenino; Humanos; Masculino; Linaje

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Ictiosis Lamelar / Queratodermia Palmoplantar / Proteínas de la Membrana Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Br J Dermatol Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido

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