Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of <i>CSNK2B</i>-Associated Disorders.

Genes (Basel) · 2023 · PMC9957394 · PMID 36833176

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The Quantitative Real-time PCR (qRT-PCR) showed no significant difference in CSNK2B expression in patient 1 (Leu39Arg) and a highly significant decrease in CSNK2B mRNA in patient 2 (Met132fs) compared to control mRNA expression ( Figure 6 A,B, respectively).

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