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

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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Bibliographic Details
Main Authors: Atilano Carcavilla, Ana Cambra, José L. Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquieta
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Journal of Clinical Medicine
Subjects:
short stature
growth
growth hormone
RASopathies
Noonan syndrome
genetic
Online Access:https://www.mdpi.com/2077-0383/12/15/5003

Internet

https://www.mdpi.com/2077-0383/12/15/5003

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