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

Autism spectrum disorder (ASD) and intellectual disability (ID) often exist together in patients. The RAB39B gene has been reported to be mutated in ID patients with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism. Here, we describe a novel RAB39...

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Detalles Bibliográficos
Autores principales: Mignogna, Maria Lidia, Ficarella, Romina, Gelmini, Susanna, Marzulli, Lucia, Ponzi, Emanuela, Gabellone, Alessandra, Peschechera, Antonia, Alessio, Massino, Margari, Lucia, Gentile, Mattia, D’Adamo, Patrizia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9071400/
https://www.ncbi.nlm.nih.gov/pubmed/34761259
http://dx.doi.org/10.1093/hmg/ddab320

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