- CDK13-related disorder - Wikipedia
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features
- CDK13-Related Disorder - GeneReviews® - NCBI Bookshelf
CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay intellectual disability (DD ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech)
- CDK13-related disorder - Unique
CDK13-related disorder is a rare genetic condition associated with developmental delay, intellectual disability, heart conditions, and speech and language disorders
- CDK13‐Related Disorder: Novel Insights From A Series of 27 . . .
Here we describe a group of 27 previously unreported patients to more accurately profile the clinical spectrum associated with CDK13 variants, disclosing novel associated findings, such as complex craniosynostosis and variable skeletal features (e g , cranio- cervical anomalies)
- Oncogenic CDK13 mutations impede nuclear RNA surveillance
To elucidate the mechanism of mutant CDK13 oncogenesis, we immunoprecipitated CDK13 and discovered binding to proteins associated with the polyA tail exosome targeting (PAXT) complex, which targets ptRNAs for degradation in the nucleus
- CDK13-related disorder - ScienceDirect
In this chapter, we review the 44 cases of CDK13 -related disorder reported to date, highlighting key clinical pointers to this diagnosis including characteristic craniofacial features, feeding difficulties in infancy, and the presence of structural heart or brain malformations
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