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Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes

Crossref DOI link: https://doi.org/10.1038/s41431-025-01839-4

Published Online: 2025-03-29

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Harms, Frederike L. https://orcid.org/0000-0003-2610-0600
Müller, Christian

Kortüm, Fanny

Hempel, Maja https://orcid.org/0000-0003-0609-2738
Alawi, Malik https://orcid.org/0000-0002-5993-7709
Zaki, Maha S. https://orcid.org/0000-0001-7840-0002
Elhossini, Rasha M.

Abdel-Hamid, Mohamed S.

AlAbdi, Lama

Alkuraya, Fowzan S. https://orcid.org/0000-0003-4158-341X
Kurdi, Wesam https://orcid.org/0000-0001-7958-8123
Celse, Tristan

Spodenkiewicz, Marta

Laurens, Tiphany

Dieterich, Klaus https://orcid.org/0000-0002-4362-4062
Jagadeesh, Sujatha

Salvankar, Sandesh

Girisha, Katta M. https://orcid.org/0000-0002-0139-8239
Kutsche, Kerstin https://orcid.org/0000-0001-8494-8963
Funding

Funding for this research was provided by:

Deutsche Forschungsgemeinschaft (KU 1240/13-1)

Science and Technology Development Fund (STDF), Academy of Science Research and Technology, Egypt (Grant number: 33492).
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Article History

Received: 1 November 2024

Revised: 27 January 2025

Accepted: 19 March 2025

First Online: 29 March 2025

Competing interests

: The authors declare no competing interests.

: Genetic studies were approved by local Institutional Review Boards (IRB) such as the Medical Research Ethics Committee of the National Research Centre, Cairo, Egypt (Approval number: 20066) for subjects 1 and 2, the Ethics Committee of the Hamburg Medical Chamber, Hamburg, Germany (PV7038-4438-BO-ff) for subject 3, and the IRB of the King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia (RAC# 2080006) for subjects 4 and 5. The parents of these subjects provided written informed consent for participation in the study, clinical data and specimen collection, genetic analysis, and publication of relevant findings. Genetic studies were performed clinically in subjects 6 and 7 and their legal guardians provided informed written consent for genetic testing. Subjects were anonymized before collecting data (a number has been assigned to each subject).

: Written informed consent for the publication of photographs was obtained for subjects 1, 2, and 6.

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