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Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

14 Feb 2023

Abstract excerpt

, a tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK pathway. This explains why NF1 is included in the group of RASopathies and shares several clinical features with Noonan syndrome. Here, we describe the main clinical characteristics and complications associated with NF1, particularly those occurring in pediatric age. NF1 has complete penetrance and shows wide inter- and...

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PMID: 36831560
DOI: 10.3390/cancers15041217

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