New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.

Baldo, Francesco; Fachin, Alice; Da Re, Beatrice; Rubinato, Elisa; Bobbo, Marco; Barbi, Egidio

Baldo, Francesco; Fachin, Alice; Da Re, Beatrice; Rubinato, Elisa; Bobbo, Marco; Barbi, Egidio.

Baldo F; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Fachin A; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy. fachin.alice94@gmail.com.
Da Re B; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Rubinato E; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Bobbo M; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Barbi E; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

BMC Pediatr ; 22(1): 734, 2022 12 24.

Article en En | MEDLINE | ID: mdl-36566191

Asunto(s)

Síndrome de Noonan; Niño; Humanos; Pruebas Genéticas; Péptidos y Proteínas de Señalización Intracelular/genética; Mutación; Síndrome de Noonan/diagnóstico; Síndrome de Noonan/genética; Fenotipo; Estudios Retrospectivos; Proteína SOS1/genética; Proteínas Proto-Oncogénicas p21(ras)/genética

Palabras clave

Diagnosis; Genetic diagnosis; Noonan syndrome; Phenotype; RASopathies

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Noonan Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article

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