article_metadata: Jan Fischer Mariëlle Alders Marcel M A M Mannens David Genevieve Karl Hackmann Evelin Schröck Bekim Sadikovic Joseph Porrmann
article_metadata: 10.1186/s13148-024-01807-7
article_metadata: Clin Epigenetics
article_metadata: 2025 Jan 13;17(1):5.
article_metadata: cdk13 chdfidd developmental delay episignature
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39800774/
article_metadata: Heart Defects, Congenital / genetics Intellectual Disability / genetics
article_metadata: Heart Defects, Congenital / genetics Intellectual Disability / genetics Case Reports CDC2 Protein Kinase / genetics DNA Methylation / genetics Developmental Disabilities / diagnosis Developmental Disabilities / genetics Genes, Recessive / genetics Humans Male Mutation, Missense CDK13 protein, human CDC2 Protein Kinase
article_metadata: PMC11727325
article_metadata: 39800774
article_metadata: Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
article_metadata: 2025