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Title: Neurofibromatosis type 1 system-based manifestations and treatments: a review
Authors: Saleh, Mustafa
Dib, AlFadel
Beaini, Sarah
Saad, Charbel
Faraj, Sary
El Joueid, Youssef
Kotob, Yasmine
Saoudi, Lara
Emmanuel, Nancy
Affiliations: Faculty of Medicine 
Keywords: Clinical trials
Emerging treatments
Neurofibromatosis 1
Neurofibromatosis type 1
Issue Date: 2023-02-24
Publisher: Springer
Part of: Neurological Sciences
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation in the NF1 gene. This disease presents with various system-based manifestations, including cardiac, musculoskeletal, and neuronal issues, which have been well-studied in previous research and have prompted the development of current and emerging treatments. These treatments, mainly medications targeting specific manifestations of NF1, aim to mitigate the negative impacts of the disease on patients' lives. NF1 is associated with an increased risk of malignancy and a significant decrease in life expectancy. In this paper, we review the current and emerging treatments for NF1 in relation to its system-based manifestations.
DOI: 10.1007/s10072-023-06680-5
Open URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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