Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.

Cammarata-Scalisi, F; Natsuga, K; Toyonaga, E; Nishie, W; Shimizu, H; Avendaño, A; Araque, D; Da Silva, G; Bellacchio, E; Callea, M

Cammarata-Scalisi, F; Natsuga, K; Toyonaga, E; Nishie, W; Shimizu, H; Avendaño, A; Araque, D; Da Silva, G; Bellacchio, E; Callea, M.

Afiliação

Cammarata-Scalisi F; Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
Natsuga K; Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
Toyonaga E; Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
Nishie W; Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
Shimizu H; Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
Avendaño A; Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
Araque D; Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
Da Silva G; Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
Bellacchio E; Bambino Gesù Children's Hospital IRCCS, Research Laboratory, Rome, Italy.
Callea M; Department of Dentistry, Bambino Gesù Children's Hospital - IRCCS, Viale S. Paolo 15, 00147 Rome, Italy.

J Eur Acad Dermatol Venereol ; 31(2): e94-e96, 2017 Feb.

Article em En | MEDLINE | ID: mdl-27445120

Assuntos

Queratina-6/genética; Mutação; Paquioníquia Congênita/genética; Criança; Feminino; Humanos; Masculino; Linhagem

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paquioníquia Congênita / Queratina-6 / Mutação Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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