A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson ’s disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in abou...

Source: BMC Neurology - September 1, 2020 Category: Neurology Authors: Claudia Santoro, Teresa Giugliano, Pia Bernardo, Federica Palladino, Annalaura Torella, Francesca del Vecchio Blanco, Maria Elena Onore, Marco Carotenuto, Vincenzo Nigro and Giulio Piluso Tags: Case report Source Type: research