Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

We describe a 38-year-old male patient with intellectual disability and progressive motor symptoms who lacked an etiological diagnosis for many years. Finally, clinical exome sequencing showed a likely pathogenic variant of the ARX gene suggesting Partington syndrome. His main symptoms were mild int...

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Detalles Bibliográficos
Autores principales: Arvio, Maria, Lähdetie, Jaana, Koivu, Hannu, Sohlberg, Antti, Pekkonen, Eero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935879/
https://www.ncbi.nlm.nih.gov/pubmed/36816814
http://dx.doi.org/10.1155/2023/3636748

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935879/
https://www.ncbi.nlm.nih.gov/pubmed/36816814
http://dx.doi.org/10.1155/2023/3636748

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