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Article History

Accepted: 6 July 2025

First Online: 31 July 2025

Declarations

:

: This study was funded by the Instituto de Salud Carlos III-Subdirección General de Evaluación y Fomento de la Investigación [PI19/00949; PI22/01010]. The funder played no role in the study design, data collection, analysis or interpretation, or writing of this article. Part of the equipment employed in this work was funded by the University of Valencia. Alba Berzal-Serrano is the recipient of a predoctoral contract from the Valencian Government (ACIF/2021/057). Gema García-García acknowledges two grants from the Instituto de Salud Carlos III, “CP22/00028” and “PI22/01371”, co-funded by the European Union.

: Lidón Carretero-Vilarroig, Rosana Blanco-Máñez, Noelia Muñoz-Fernández, Isabel Ibáñez, Alba Berzal-Serrano, Ana Reula, Belén García-Bohórquez, Elena Aller, Gema García-García, Jose M. Millán, Miguel Armengot-Carceller and Teresa Jaijo have no conflicts of interest that are directly relevant to the content of this article.

: This study was approved by the Institutional Ethics Committee at La Fe Health Research Institute Hospital (PI19/00949; PI22/01010).

: Informed consent was obtained from all patients and their relatives prior to the genetic analysis.

: Not applicable.

: The data in the study can be obtained by contacting the corresponding author.

: Not applicable.

: MA and TJ developed the study concept. MA, NM and II performed clinical anamnesis and nasal biopsies. MA, NM, II and LC analysed the ciliary beat pattern. RB performed TEM protocols, obtained images and performed the structural analysis. LC and AB performed the laboratory genetic protocols. LC, TJ and AB analysed the genetic data. LC and RB developed the statistical analysis. LC and TC drafted the manuscript. All authors contributed to the revision of the manuscript.