Autosomal-dominant NF1 mutations cause neurofibromatosis type 1 (NF1), one of the most common genetic diseases affecting approx. 1 in 3000–4000 live births, which is mainly characterized by the presence of nerve sheath tumors23, in addition to musculoskeletal involvement, strongly affecting the patients’ mobility and quality of life24. Here, NF1 is linked to neurofibromatosis.