Article
Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses.
American journal of medical genetics. Part A - 1 Jul 2025
Du Haowei, Szafranski Przemyslaw, Gerard Amanda, Azamian Mahshid S, Bi Weimin, Bekheirnia Mir Reza, Stankiewicz Paweł
Abstract excerpt
Clark-Baraitser syndrome is a rare neurodevelopmental disorder associated with the E3 ubiquitin-protein ligase gene TRIP12. Using chromosomal microarray analysis (CMA), long-range PCR, breakpoint sequencing, and RNA analyses, we studied a 6-year-old female presenting with developmental delay, aggressive behavior, attention-deficit hyperactivity disorder, and mild dysmorphic features. CMA revealed a de novo ~87 kb...
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