Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopat...

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Main Authors: Antonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, Elia Marco Paolo Minale, Giangiacomo Di Nardo, Giovanni Maria Di Marco, Geremia Zito Marinosci, Giorgia Olimpico, Paolo Siani, Daniele De Brasi
Format: Article
Language:English
Published: MDPI AG 2024-10-01
Series:Children
Subjects:
Noonan syndrome
targeted molecular therapy
MEK inhibitor
hypertrophic cardiomyopathy
pulmonary stenosis
refractory chylothorax
Online Access:https://www.mdpi.com/2227-9067/11/11/1342
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