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Article

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

15 Mar 2022

Abstract excerpt

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 52% of affected females remain nonverbal after five years of age. Case presentation: We report a 7 year old...

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PMID: 35326346
DOI: 10.3390/brainsci12030390

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