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Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS

1 Jan 2025

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a syndrome triggered by mutations in the NF1 gene, which alter the neurofibromin protein, a negative regulator of the RAS oncogenic pathway. Due to underreporting, the scarcity of studies on NF1 in Brazil and its importance in public health. This study aimed to assess the clinical and epidemiological characterisation of NF1 in a Reference Hospital in the country and DataSUS. The...

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PMID: 40402550
DOI: 10.1590/1678-4685-gmb-2024-0144

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