Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI

BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare multisystem disease with global developmental delay and autistic features. Genetically, the disease is based on a heterozygous deletion of chromosome 22q13.3 with involvement of at least part of the SHANK3 gene or heterozygous pathogenic variants...

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Detalles Bibliográficos
Autores principales: Jesse, Sarah, Müller, Hans-Peter, Huppertz, Hans-Jürgen, Andres, Stephanie, Ludolph, Albert C., Schön, Michael, Boeckers, Tobias M., Kassubek, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10481508/
https://www.ncbi.nlm.nih.gov/pubmed/37670319
http://dx.doi.org/10.1186/s13023-023-02863-7

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