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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

Published Online: 2025-01-13

Authors

Fischer, Jan

Alders, Mariëlle

Mannens, Marcel M. A. M.

Genevieve, David

Hackmann, Karl

Schröck, Evelin

Sadikovic, Bekim

Porrmann, Joseph
Funding

Funding for this research was provided by:

Universitätsklinikum Carl Gustav Carus Dresden an der Technischen Universität Dresden
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Text and Data Mining valid from 2025-01-13

Version of Record valid from 2025-01-13
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Article History

Received: 18 October 2024

Accepted: 22 December 2024

First Online: 13 January 2025

Declarations

:

: Consent for publication was obtained from all participants.

: Ethics approval for the study was obtained through the local ethics committee at the Technical University Dresden (reference number: EK 273072018). Consent to participate in the study was obtained from all individuals or their legal guardian.

: B.S. is an employee and shareholder of EpiSign, Inc., a biotech firm involved in commercial application of EpiSign technology.

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