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Article

Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

4 Aug 2025

Abstract excerpt

Background Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene NF1 , which encodes neurofibromin, a negative regulator of rat sarcoma proteins. NF1 is an autosomal dominant disorder with complete penetrance, but a highly variable expression. Identification of genotype–phenotype correlations...

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PMID: 40759488
DOI: 10.1136/jmg-2025-110783

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