Article
[Diagnostic and therapeutic perspectives in RASopathies].
Magyar onkologia - 10 Dec 2024
Botos Barnabás Péter, Erhardt Júlia, Jenei Sámuel, Li Kamilla Luca, Kovács Dávid Sándor, Egyed Bálint, Beniczky Jusztina Nikolett, Erdélyi Dániel, Müller Judit, Brückner Edit, Csóka Monika, Szabó Andrea, Környei László, Bertalan Rita, Kovács Gábor, Vilmányi Csaba, Garami Miklós, Bödör Csaba, Kovács Ferenc Árpád
Abstract excerpt
RASopathies are congenital diseases that manifest in childhood with symptoms and potential complications, typically associated with an elevated tumour predisposition risk. The heterogeneous symptoms involve mostly central nervous, cardiovascular, musculoskeletal systems and skin, and modified growth pattern. From molecular perspective, the function of a key protein involved in Ras signalling is impaired, leading...
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