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A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.
Micolonghi, Caterina; Piane, Maria; Germani, Aldo; Sadeghi, Soha; Libi, Fabio; Savio, Camilla; Fabiani, Marco; Mancini, Rita; Ranieri, Danilo; Pizzuti, Antonio; Corleto, Vito Domenico; Parisi, Pasquale; Visco, Vincenzo; Di Nardo, Giovanni; Petrucci, Simona.
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  • Micolonghi C; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
  • Piane M; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Germani A; S. Andrea University Hospital, 00189 Rome, Italy.
  • Sadeghi S; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Libi F; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
  • Savio C; S. Andrea University Hospital, 00189 Rome, Italy.
  • Fabiani M; S. Andrea University Hospital, 00189 Rome, Italy.
  • Mancini R; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
  • Ranieri D; ALTAMEDICA, Human Genetics, 00198 Rome, Italy.
  • Pizzuti A; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Corleto VD; S. Andrea University Hospital, 00189 Rome, Italy.
  • Parisi P; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
  • Visco V; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
  • Di Nardo G; Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Petrucci S; S. Andrea University Hospital, 00189 Rome, Italy.
Diagnostics (Basel) ; 12(11)2022 Nov 04.
Article en En | MEDLINE | ID: mdl-36359527
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Texto completo: 1 Colección: 01-internacional Idioma: En Revista: Diagnostics (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Idioma: En Revista: Diagnostics (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Italia