Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review
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DOI: 10.3389/fgene.2025.1463485
Abstract: Introduction Intellectual disability, autosomal dominant 29 is a rare disorder resulting from pathogenic variants of SETBP1 gene with no specific mutation hotspot identified. Systematic descriptions of new cases are crucial for understanding the genotypic and… read more here.
Keywords: intellectual disability; variant; disability autosomal; nonsense ... See more keywords