Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site DDX3X Variant: A Case Report of a Rare Clinical Syndrome

Background. Heterozygous pathogenic variants in the DDX3X gene account for 1–3% of females with intellectual and developmental disabilities (IDD). The clinical presentation is variable, including a wide range of neurological and behavioral deficits and structural defects of the brain. Approximately...

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Detalles Bibliográficos
Autores principales: Stefaniak, Urszula, Malak, Roksana, Mojs, Ewa, Samborski, Włodzimierz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946163/
https://www.ncbi.nlm.nih.gov/pubmed/35326346
http://dx.doi.org/10.3390/brainsci12030390

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946163/
https://www.ncbi.nlm.nih.gov/pubmed/35326346
http://dx.doi.org/10.3390/brainsci12030390

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