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Authors
Iturrate, Asier https://orcid.org/0000-0002-7896-8519
Assia Batzir, Nurit https://orcid.org/0000-0001-8018-226X
Jaron, Ranit
Garcia-Valentin, David
Nevado, Julian
Tenorio-Castano, Jair
Lapunzina, Pablo https://orcid.org/0000-0002-6324-4825
Lee, Kamila
Greenberg, Rotem https://orcid.org/0000-0002-1315-6835
Sassi, Dvora
Aharoni, Sharon
Kuzminsky, Alla
Basel-Salmon, Lina https://orcid.org/0000-0002-6327-5138
Orenstein, Naama
Fellig, Yakov
Ben-Shachar, Shay
Marek-Yagel, Dina https://orcid.org/0009-0001-3386-9824
Ruiz-Perez, Victor L. https://orcid.org/0000-0003-0635-3619
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Article History
Received: 19 June 2025
Revised: 19 August 2025
Accepted: 8 September 2025
First Online: 29 September 2025
Competing interests
: The authors declare no competing interests.
: For family 1, studies were completed after approval of the Rabin Medical Center Institutional Review Board in accordance with the ethical standards of the NIH and National Human Genome Research Institute (protocol number 6826). For family 2, research studies were approved by the Institutional Ethics Committees of Medical Research Institute-Alexandria University, Hospital La Paz (PI-6270) and CSIC. Written informed consent was obtained from all participants or their parents for genetic analysis and publication of clinical and molecular data.
