Toward More Accurate Diagnosis in Neurofibromatosis Type 1: A Dual-Level Analysis of Clinical and Molecular Data with Exploratory Genotype-Phenotype Correlations in a Romanian Cohort.

Abstract excerpt

BACKGROUND/OBJECTIVES: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in the NF1 gene, characterized by high phenotypic variability. METHODS: We present clinical and molecular data from a Romanian cohort of 54 patients initially diagnosed clinically. RESULTS: Phenotypic evaluation (n = 54) revealed a high prevalence of café-au-lait macules (100%), Lisch nodules...

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