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Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico, Alessandra; Rosano, Carmen; Pannone, Luca; Pinna, Valentina; Assunto, Antonia; Motta, Marialetizia; Ugga, Lorenzo; Daniele, Paola; Mandile, Roberta; Mariniello, Lucio; Siano, Maria Anna; Santoro, Claudia; Piluso, Giulio; Martinelli, Simone; Strisciuglio, Pietro; De Luca, Alessandro; Tartaglia, Marco; Melis, Daniela.
Affiliation
  • D'Amico A; Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
  • Rosano C; Tortorella Private Hospital, Salerno, Italy.
  • Pannone L; Translational Medical Sciences Department, University of Naples "Federico II", Naples, Italy.
  • Pinna V; Genetics and Rare Diseases Research Division, Pediatric Hospital Bambino Gesù, IRCCS, Rome, Italy.
  • Assunto A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Motta M; Translational Medical Sciences Department, University of Naples "Federico II", Naples, Italy.
  • Ugga L; Genetics and Rare Diseases Research Division, Pediatric Hospital Bambino Gesù, IRCCS, Rome, Italy.
  • Daniele P; Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
  • Mandile R; Tortorella Private Hospital, Salerno, Italy.
  • Mariniello L; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Siano MA; Translational Medical Sciences Department, University of Naples "Federico II", Naples, Italy.
  • Santoro C; Translational Medical Sciences Department, University of Naples "Federico II", Naples, Italy.
  • Piluso G; Department of Medicine, Surgery and Dentistry, "Scuola Medica Salernitana", Salerno, Italy.
  • Martinelli S; Referral Centre of Neurofibromatosis, Department of Woman and Child, Specialistic and General Surgery, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Strisciuglio P; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • De Luca A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Tartaglia M; Translational Medical Sciences Department, University of Naples "Federico II", Naples, Italy.
  • Melis D; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Clin Genet ; 100(5): 563-572, 2021 11.
Article in En | MEDLINE | ID: mdl-34346503
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Magnetic Resonance Imaging / Neurofibromatosis 1 / Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Magnetic Resonance Imaging / Neurofibromatosis 1 / Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Country of publication: