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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-28657137
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Severe Combined Immunodeficiency / Branchio-Oto-Renal Syndrome / Paired Box Transcription Factors / Intellectual Disability / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Child / Female / Humans / Infant / Male Country/Region as subject: Africa Language: En Journal: Clin Genet Year: 2017 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Severe Combined Immunodeficiency / Branchio-Oto-Renal Syndrome / Paired Box Transcription Factors / Intellectual Disability / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Child / Female / Humans / Infant / Male Country/Region as subject: Africa Language: En Journal: Clin Genet Year: 2017 Document type: Article Affiliation country: Country of publication: