Article
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
BMC neurology - 1 Sept 2020
Santoro Claudia, Giugliano Teresa, Bernardo Pia, Palladino Federica, Torella Annalaura, Del Vecchio Blanco Francesca, Onore Maria Elena, Carotenuto Marco, Nigro Vincenzo, Piluso Giulio
Abstract excerpt
BACKGROUND: 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 about 50% of cases, usually due to paternal gonadal mutations. This case report describes clinical and genetic findings in a boy with the occurrence of two distinct causative mutations in NF1 and...
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