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Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion

Crossref DOI link: https://doi.org/10.1007/s00109-024-02482-0

Published Online: 2024-09-13

Published Print: 2024-11

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

Authors

Rackova, Marketa https://orcid.org/0000-0002-2991-8873
Mattera, Rafael https://orcid.org/0000-0003-1421-0722
Svaton, Michael https://orcid.org/0000-0003-2966-3687
Fencl, Filip https://orcid.org/0000-0002-8106-1037
Kanderova, Veronika https://orcid.org/0000-0001-8513-1066
Spicakova, Karolina https://orcid.org/0000-0001-9963-4764
Park, Sang Yoon

Fabian, Ondrej https://orcid.org/0000-0002-0393-2415
Koblizek, Miroslav https://orcid.org/0000-0002-8422-732X
Fronkova, Eva https://orcid.org/0000-0002-6900-8145
Bonifacino, Juan S. https://orcid.org/0000-0002-5673-6370
Skvarova Kramarzova, Karolina https://orcid.org/0000-0003-4860-7453
Funding

Funding for this research was provided by:

Eunice Kennedy Shriver National Institute of Child Health and Human Development (ZIA HD001607)

Univerzita Karlova v Praze (UNCE/24/MED/003)

Ministerstvo Zdravotnictví Ceské Republiky (Programme EXCELES, ID Project No. LX22NPO5102, NU23-07–00170)

Charles University
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Text and Data Mining valid from 2024-09-13

Version of Record valid from 2024-09-13
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Article History

Received: 6 May 2024

Revised: 19 August 2024

Accepted: 21 August 2024

First Online: 13 September 2024

Declarations

:

: This study was performed in accordance with the Institutional Review Board of the Second Faculty of Medicine, Charles University and University Hospital Motol, and the Declaration of Helsinki. Written informed consent was obtained from all participants and/or their parents.

: The authors have no relevant financial or non-financial interests to disclose.

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