Two Siblings With Al Kaissi Syndrome: Clinical, Radiological, and Molecular Characterization of Compound Heterozygous CDK10 Variants.

Abstract excerpt

Al Kaissi syndrome is a rare autosomal recessive neurodevelopmental disorder resulting from biallelic loss-of-function variants in the CDK10 gene. Cyclin-dependent kinase 10 (CDK10) encoded protein plays essential roles in cell cycle regulation, transcriptional control, and ciliogenesis. We report two male siblings presenting with developmental delay, dysmorphic facial features, and skeletal anomalies....

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