Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Yu, Kris P T; Luk, Ho-Ming; Leung, Gordon K C; Mak, Christopher C Y; Cheng, Shirley S W; Hau, Edgar W L; Chan, David K H; Lam, Stephen T S; Tong, Tony M F; Chung, Brian H Y; Lo, Ivan F M

Yu, Kris P T; Luk, Ho-Ming; Leung, Gordon K C; Mak, Christopher C Y; Cheng, Shirley S W; Hau, Edgar W L; Chan, David K H; Lam, Stephen T S; Tong, Tony M F; Chung, Brian H Y; Lo, Ivan F M.

Yu KPT; Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.
Luk HM; Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.
Leung GKC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, HKSAR, Hong Kong.
Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, HKSAR, Hong Kong.
Cheng SSW; Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.
Hau EWL; Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.
Chan DKH; Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.
Lam STS; Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.
Tong TMF; Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, HKSAR, Hong Kong.
Lo IFM; Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.

Am J Med Genet C Semin Med Genet ; 181(2): 208-217, 2019 06.

Article en En | MEDLINE | ID: mdl-30896080

Asunto(s)

Mutación; Fenotipo; Proteínas ras/genética; Síndrome de Costello/genética; Síndrome de Costello/patología; Displasia Ectodérmica/genética; Displasia Ectodérmica/patología; Facies; Insuficiencia de Crecimiento/genética; Insuficiencia de Crecimiento/patología; Femenino; Cardiopatías Congénitas/genética; Cardiopatías Congénitas/patología; Hong Kong; Humanos; Síndrome LEOPARD/genética; Síndrome LEOPARD/patología; Sistema de Señalización de MAP Quinasas/genética; Masculino; Síndrome de Noonan/genética; Síndrome de Noonan/patología; Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética; Estudios Retrospectivos

Palabras clave

Costello syndrome; Noonan syndrome; Noonan syndrome with multiple lentigines syndrome; RASopathies; cardiofaciocutaneous syndrome

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas ras / Mutación Tipo de estudio: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article

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