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

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...

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Detalles Bibliográficos
Autores principales: Santoro, Claudia, Giugliano, Teresa, Bernardo, Pia, Palladino, Federica, Torella, Annalaura, del Vecchio Blanco, Francesca, Onore, Maria Elena, Carotenuto, Marco, Nigro, Vincenzo, Piluso, Giulio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460788/
https://www.ncbi.nlm.nih.gov/pubmed/32873259
http://dx.doi.org/10.1186/s12883-020-01911-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460788/
https://www.ncbi.nlm.nih.gov/pubmed/32873259
http://dx.doi.org/10.1186/s12883-020-01911-0

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