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A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.
Paganini, I; Sestini, R; Capone, G L; Putignano, A L; Contini, E; Giotti, I; Gensini, F; Marozza, A; Barilaro, A; Porfirio, B; Papi, L.
Afiliação
  • Paganini I; Department of Experimental and Clinical Biomedical Sciences "Mario Serio," Medical Genetics Unit, University of Florence, Florence, Italy.
  • Sestini R; Department of Experimental and Clinical Biomedical Sciences "Mario Serio," Medical Genetics Unit, University of Florence, Florence, Italy.
  • Capone GL; Department of Experimental and Clinical Biomedical Sciences "Mario Serio," Medical Genetics Unit, University of Florence, Florence, Italy.
  • Putignano AL; Department of Experimental and Clinical Biomedical Sciences "Mario Serio," Medical Genetics Unit, University of Florence, Florence, Italy.
  • Contini E; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Giotti I; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Gensini F; Department of Experimental and Clinical Biomedical Sciences "Mario Serio," Medical Genetics Unit, University of Florence, Florence, Italy.
  • Marozza A; Department of Experimental and Clinical Biomedical Sciences "Mario Serio," Medical Genetics Unit, University of Florence, Florence, Italy.
  • Barilaro A; Medical Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Porfirio B; Neurology Unit, Careggi University Hospital, Florence, Italy.
  • Papi L; Department of Experimental and Clinical Biomedical Sciences "Mario Serio," Medical Genetics Unit, University of Florence, Florence, Italy.
Clin Genet ; 92(6): 664-668, 2017 Dec.
Article em En | MEDLINE | ID: mdl-28657137
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa / Síndrome Brânquio-Otorrenal / Fatores de Transcrição Box Pareados / Deficiência Intelectual / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa / Síndrome Brânquio-Otorrenal / Fatores de Transcrição Box Pareados / Deficiência Intelectual / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article