A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B.

Bland, P J; Chronnell, C; Plagnol, V; Kayserili, H; Kelsell, D P

Bland, P J; Chronnell, C; Plagnol, V; Kayserili, H; Kelsell, D P.

Afiliação

Bland PJ; Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.
Chronnell C; Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.
Plagnol V; Department of Genetics, University College London, London, U.K.
Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet cad, 34093, Fatih Istanbul, Turkey.
Kelsell DP; Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.

Br J Dermatol ; 173(1): 285-7, 2015 Jul.

Article em En | MEDLINE | ID: mdl-25524567

Assuntos

Araquidonato 12-Lipoxigenase/genética; Eritrodermia Ictiosiforme Congênita/genética; Mutação de Sentido Incorreto/genética; Feminino; Homozigoto; Humanos; Lactente; Fenótipo

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Araquidonato 12-Lipoxigenase / Eritrodermia Ictiosiforme Congênita / Mutação de Sentido Incorreto Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google