Genotype-phenotype correlations in neurofibromatosis type 1: identification of novel and recurrent nf1 gene variants and correlations with neurocognitive phenotype

HIGHLIGHTS

SUMMARY

The aim of this study is to delineate the mutational spectrum of NF1 mutations and to elucidate genotype-phenotype correlations through integrated mutational screening and clinical data collection in a monocentric cohort of selected NF1 patients. The careful selection of the NF1 patients and the availability of the long follow-up, of at least 5 years for each patient, allowed the authors to have a full clinical view of the NF1 disease and to get insight the possible genotype-phenotype correlations of the NF1 mutations identified in the investigation. In the study five different . . .

 



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