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Article

Erdheim-Chester Disease Due to a Novel Internal Duplication of NRAS: Response to Targeted Therapy with Cobimetinib.

International journal of molecular sciences - 23 Oct 2023

Riancho José A, Hernández José L, González-Vela Carmen, López-Sundh Ana E, González-Lopez Marcos A, Gomez de la Fuente Francisco, Quirce Remedios, Diamond Eli L

Abstract excerpt

Histiocytoses encompass a group of exceptionally rare disorders characterized by the abnormal infiltration of tissues by histocytes. Among these, Erdheim-Chester disease (ECD) stands out as a multisystem histiocytosis that typically affects bones and various other tissues. Historically, the treatment of ECD has been challenging. However, recent breakthroughs in our understanding, particularly the discovery of...

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PMID: 37895147
DOI: 10.3390/ijms242015467
PMCID: PMC10606995

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