Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants - case report and literature review
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There are 21 human cyclin-dependent kinases which are involved in regulation of the cell cycle, transcription, RNA splicing, apoptosis and neurogenesis. Five of them: CDK4, CDK5, CDK6, CDK10 and CDK13 are associated with human phenotypes. To date, only 62 pati... ...