Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a large cohort of patients with RASopathies, with...

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Detalles Bibliográficos
Autores principales: Carcavilla, Atilano, Cambra, Ana, Santomé, José L., Seidel, Verónica, Cruz, Jaime, Alonso, Milagros, Pozo, Jesús, Valenzuela, Irene, Guillén-Navarro, Encarna, Santos-Simarro, Fernando, González-Casado, Isabel, Rodríguez, Amparo, Medrano, Constancio, López-Siguero, Juan Pedro, Ezquieta, Begoña
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10420167/
https://www.ncbi.nlm.nih.gov/pubmed/37568403
http://dx.doi.org/10.3390/jcm12155003

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