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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

14 Apr 2021

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized by a heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, and genetic data from a cohort of 583 individuals meeting at least 1 diagnostic National...

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PMID: 33919865
DOI: 10.3390/cancers13081879

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