Associated Papers
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Mignogna ML et al.
Human Molecular Genetics, 2022
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 C et al.
Bmc Neurology, 2020
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Ciammola A et al.
Parkinsonism & Related Disorders, 2017
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