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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...
Autores principales: | Stefaniak, Urszula, Malak, Roksana, Mojs, Ewa, Samborski, Włodzimierz |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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