CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

ABSTRACT: In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar facial features (Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to as CDK13-related disorder, and since then other reports have provided further clinical and molecular information. 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 a

SUBMITTER: Contro G 

PROVIDER: S-EPMC12215276 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature