Article

Molecular spectrum and genotype-phenotype correlations in Romanian patients with neurofibromatosis type 1

2026-07-14

Abstract excerpt

<title>Abstract</title> <p> Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem disorder caused by heterozygous loss-of-function variants in <italic>NF1</italic> , encoding neurofibromin. Despite complete penetrance, clinical presentation is highly variable, complicating diagnosis, prognosis, and clinical management. We analyzed the molecular spectrum and genotype-phenotype relationships in 162...

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Literature Corpus work: f68cb463-4050-57a6-b096-fcc1e7749f75
DOI: 10.21203/rs.3.rs-10161754/v1

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