NF1 and neurofibroma: On the other hand, some patients with canonical NFNS, characterized by multiple cafe-au-lait macules, absence of neurofibromas, short stature, learning disabilities, pulmonary valve stenosis and features of Noonan syndrome, were found due to specific NF1 mutations, such as c.2970-2972delAAT deletion or missense variants at codon 1809 [11, 12].