A novel RAB39B mutation and concurrent de novo NF1 mutation...

BMC Neurology 2020 / 12 Vol. 20; Iss. 1

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

Santoro, Claudia, Giugliano, Teresa, Bernardo, Pia, Palladino, Federica, Torella, Annalaura, del Vecchio Blanco, Francesca, Onore, Maria Elena, Carotenuto, Marco, Nigro, Vincenzo, Piluso, Giulio
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Volume:
20
Journal:
BMC Neurology
DOI:
10.1186/s12883-020-01911-0
Date:
December, 2020
File:
PDF, 1.19 MB
2020
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