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Authors
Erzar, Eva https://orcid.org/0009-0005-8230-8707
Sindi-Ivanova, Vanesa https://orcid.org/0000-0002-5271-537X
Dirnhofer, Stefan https://orcid.org/0009-0008-5250-3159
Boltežar, Lučka
Ocvirk, Janja https://orcid.org/0000-0002-5235-2054
Kloboves Prevodnik, Veronika https://orcid.org/0000-0002-0605-6596
Tzankov, Alexandar https://orcid.org/0000-0002-1100-3819
Gašljević, Gorana https://orcid.org/0000-0002-8332-3627
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Funding
Funding for this research was provided by:
University of Basel
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Article History
Received: 6 April 2025
Accepted: 23 October 2025
First Online: 13 November 2025
Ethics declarations
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: This study was approved by The National Medical Ethics Committee of the Republic of Slovenia (No. 0120–208/2022/3) and the European Joint Programme on Rare Diseases (EJP RD) (Ethics Review Report, Proposal No. 24 – Erzar).
: E.E. provided the methodology, investigation, data curation, formal analysis, and wrote the original draft. V.S.I. supported the methodology and formal analysis. V.S.I., S.D., L.B., J.O., V.K.P, A.T., and G.G. contributed to the review and editing of the manuscript. L.B. also assisted with editing the clinical data. S.D., A.T., and G.G. re-evaluated the initial diagnoses. A.T. and G.G. provided supervision and conceptualization. All authors read and approved the final article.
: Correspondence to Alexandar Tzankov and Gorana Gašljević.
: According to the committee’s recommendation, informed consent was obtained from living patients involved in the study.
: The authors declare no competing interests.
