Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years.
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DOI: 10.1016/j.ejmg.2022.104474
Abstract: Neurofibromatosis type 1 (NF1; OMIM #162200) is the commonest multi-systemic neurocutaneous tumour-predisposition disorder. It has an age-related complete penetrance but a highly variable inter- and intra-familial expressivity. This article summarizes the clinical features and molecular… read more here.
Keywords: neurofibromatosis type; new perspectives; single centre; old new ... See more keywords