Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and com...
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI
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London: BioMed Central Ltd
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English
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London: BioMed Central Ltd
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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 in SHANK3. Pathophysiologically, this syndrome has been regard...
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Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI
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TN_cdi_doaj_primary_oai_doaj_org_article_e2022822c14d4e5e9122df5ffd40a849
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e2022822c14d4e5e9122df5ffd40a849
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02863-7
