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A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.
Callea, M; Nieminen, P; Willoughby, C E; Clarich, G; Yavuz, I; Vinciguerra, A; Di Stazio, M; Giglio, S; Sani, I; Maglione, M; Pensiero, S; Tadini, G; Bellacchio, E.
Afiliação
  • Callea M; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
  • Nieminen P; Department of Oral and Maxillofacial Diseases, University of Helsinki, Institute of Dentistry, Helsinki University Central Hospital, Helsinki, Finland.
  • Willoughby CE; Department of Eye and Vision Science, University of Liverpool, Institute of Ageing and Chronic Disease, Liverpool, UK.
  • Clarich G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
  • Yavuz I; Department of Pediatric Dentistry, Faculty of Dentistry, Dicle University, Diyarbakir, Turkey.
  • Vinciguerra A; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
  • Di Stazio M; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  • Giglio S; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.
  • Sani I; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Maglione M; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Pensiero S; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  • Tadini G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
  • Bellacchio E; Fondazione IRCCS Cà Granda - Ospedale Maggiore Policlinico Milano, Milan, Italy.
J Eur Acad Dermatol Venereol ; 30(2): 341-3, 2016 Feb.
Article em En | MEDLINE | ID: mdl-25266272
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Família / Displasia Ectodérmica Anidrótica Tipo 1 / Ectodisplasinas / Mutação INDEL Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: J Eur Acad Dermatol Venereol Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Família / Displasia Ectodérmica Anidrótica Tipo 1 / Ectodisplasinas / Mutação INDEL Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: J Eur Acad Dermatol Venereol Ano de publicação: 2016 Tipo de documento: Article