KLICK syndrome: recognizable phenotype and hot-spot POMP mutation.

Morice-Picard, F; Jonca, N; Pichery, M; Mermin, D; Leauté-Labrèze, C; Taïeb, A; Mazereeuw-Hautier, J; Boralevi, F

Morice-Picard, F; Jonca, N; Pichery, M; Mermin, D; Leauté-Labrèze, C; Taïeb, A; Mazereeuw-Hautier, J; Boralevi, F.

Afiliação

Morice-Picard F; Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
Jonca N; Department of Paediatric Dermatology, Toulouse University Hospital, Toulouse, France.
Pichery M; Department of Paediatric Dermatology, Toulouse University Hospital, Toulouse, France.
Mermin D; Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
Leauté-Labrèze C; Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
Taïeb A; Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.
Mazereeuw-Hautier J; Department of Paediatric Dermatology, Toulouse University Hospital, Toulouse, France.
Boralevi F; Departments of Paediatric Dermatology and Dermatology, Bordeaux University Hospital, Bordeaux, France.

J Eur Acad Dermatol Venereol ; 31(3): e154-e156, 2017 Mar.

Article em En | MEDLINE | ID: mdl-27503413

Assuntos

DNA/genética; Chaperonas Moleculares/genética; Mutação; Anormalidades da Pele/genética; Dermatopatias Genéticas/genética; Pele/patologia; Criança; Análise Mutacional de DNA; Diagnóstico Diferencial; Humanos; Masculino; Chaperonas Moleculares/metabolismo; Fenótipo; Anormalidades da Pele/diagnóstico; Anormalidades da Pele/metabolismo; Dermatopatias Genéticas/diagnóstico; Dermatopatias Genéticas/metabolismo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pele / Anormalidades da Pele / Dermatopatias Genéticas / DNA / Chaperonas Moleculares / Mutação Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Revista: J Eur Acad Dermatol Venereol Ano de publicação: 2017 Tipo de documento: Article

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