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The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.
Spoerri, Iris; Brena, Michela; De Mesmaeker, Julie; Schlipf, Nina; Fischer, Judith; Tadini, Gianluca; Itin, Peter H; Burger, Bettina.
Afiliação
  • Spoerri I; Research Group of Dermatology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
  • Brena M; Section of Dermatology, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • De Mesmaeker J; Research Group of Dermatology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
  • Schlipf N; Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany.
  • Fischer J; Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany.
  • Tadini G; Section of Dermatology, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Itin PH; Dermatology, University Hospital Basel, Basel, Switzerland.
  • Burger B; Research Group of Dermatology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
JAMA Dermatol ; 151(1): 64-9, 2015 Jan.
Article em En | MEDLINE | ID: mdl-25210931
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 1_ASSA2030 Base de dados: MEDLINE Assunto principal: Variação Genética / Eritrodermia Ictiosiforme Congênita / Queratina-10 / Ictiose Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: JAMA Dermatol Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 1_ASSA2030 Base de dados: MEDLINE Assunto principal: Variação Genética / Eritrodermia Ictiosiforme Congênita / Queratina-10 / Ictiose Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: JAMA Dermatol Ano de publicação: 2015 Tipo de documento: Article