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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy, Anna; Carta, Claudio; Moretti, Sonia; Zampino, Giuseppe; Digilio, Maria C; Pantaleoni, Francesca; Scioletti, Anna Paola; Esposito, Giorgia; Cordeddu, Viviana; Lepri, Francesca; Petrangeli, Valentina; Dentici, Maria L; Mancini, Grazia M S; Selicorni, Angelo; Rossi, Cesare; Mazzanti, Laura; Marino, Bruno; Ferrero, Giovanni B; Silengo, Margherita Cirillo; Memo, Luigi; Stanzial, Franco; Faravelli, Francesca; Stuppia, Liborio; Puxeddu, Efisio; Gelb, Bruce D; Dallapiccola, Bruno; Tartaglia, Marco.
Affiliation
  • Sarkozy A; IRCCS, San Giovanni Rotondo, Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza, Rome, Italy.
Hum Mutat ; 30(4): 695-702, 2009 Apr.
Article in En | MEDLINE | ID: mdl-19206169
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Germ-Line Mutation / LEOPARD Syndrome / Proto-Oncogene Proteins B-raf / Noonan Syndrome Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2009 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Germ-Line Mutation / LEOPARD Syndrome / Proto-Oncogene Proteins B-raf / Noonan Syndrome Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2009 Type: Article Affiliation country: Italy