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Validation of a Hypomorphic Variant in CDK13 As the Cause of CHDFIDD with Autosomal Recessive Inheritance Through Determination of an Episignature

Jan Fischer,Mariëlle Alders,Marcel M. A. M. Mannens,David Genevieve,Karl Hackmann,Evelin Schröck,Bekim Sadikovic,Joseph Porrmann

Clinical Epigenetics（2025）

Cited 0|Views1
Key words
CDK13,CHDFIDD,Developmental delay,Episignature
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