Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

Rauen, Katherine A; Huson, Susan M; Burkitt-Wright, Emma; Evans, D Gareth; Farschtschi, Said; Ferner, Rosalie E; Gutmann, David H; Hanemann, C Oliver; Kerr, Bronwyn; Legius, Eric; Parada, Luis F; Patton, Michael; Peltonen, Juha; Ratner, Nancy; Riccardi, Vincent M; van der Vaart, Thijs; Vikkula, Miikka; Viskochil, David H; Zenker, Martin; Upadhyaya, Meena

Rauen, Katherine A; Huson, Susan M; Burkitt-Wright, Emma; Evans, D Gareth; Farschtschi, Said; Ferner, Rosalie E; Gutmann, David H; Hanemann, C Oliver; Kerr, Bronwyn; Legius, Eric; Parada, Luis F; Patton, Michael; Peltonen, Juha; Ratner, Nancy; Riccardi, Vincent M; van der Vaart, Thijs; Vikkula, Miikka; Viskochil, David H; Zenker, Martin; Upadhyaya, Meena.

Afiliação

Rauen KA; MIND Institute, University of California at Davis, Sacramento, California.

Am J Med Genet A ; 167A(1): 1-10, 2015 Jan.

Article em En | MEDLINE | ID: mdl-25393061

Assuntos

Neurofibromatoses/diagnóstico; Neurofibromatoses/terapia; Proteínas ras/genética; Animais; Ensaios Clínicos como Assunto; Modelos Animais de Doenças; Humanos; Imageamento por Ressonância Magnética; Camundongos; Mutação/genética; Síndrome; Carga Tumoral

Palavras-chave

Costello syndrome; Legius syndrome; Noonan syndrome; RASopathy; Ras/MAPK; capillary malformation-AV malformation syndrome; cardio-facio-cutaneous syndrome; neurofibromatosis; signal transduction pathway; therapy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatoses / Proteínas ras Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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