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Authors
Bayat, Allan https://orcid.org/0000-0003-4986-8006
Borroto, Maria Carla https://orcid.org/0000-0001-7430-5761
Salian, Smrithi
Zaki, Maha S. https://orcid.org/0000-0001-7840-0002
Benkerroum, Hind
Elbendary, Hasnaa M.
Nguyen, Thi Tuyet Mai
Sadek, Abdelrahim A.
Carli, Diana https://orcid.org/0000-0001-5690-6504
Brusco, Alfredo https://orcid.org/0000-0002-8318-7231
Ferrero, Giovanni Battista https://orcid.org/0000-0002-3793-5788
Tartaglia, Marco https://orcid.org/0000-0001-7736-9672
Hay, Eleanor
Krey, Ilona https://orcid.org/0000-0002-9168-7615
A. Jamra, Rami https://orcid.org/0000-0002-1542-1399
Bartolomaeus, Tobias https://orcid.org/0000-0002-5406-0776
Knaus, Alexej https://orcid.org/0000-0003-0366-0533
Gleeson, Joseph G.
Houlden, Henry https://orcid.org/0000-0002-2866-7777
Dominik, Natalia
Jackson, Adam
Douzgou Houge, Sofia
Banka, Siddharth https://orcid.org/0000-0002-8527-2210
Mohammadi-asl, Javad
Hajjari, Mohammadreza
Azizimalamiri, Reza
Nourbakhsh, Pardis
Neissi, Mostafa https://orcid.org/0000-0002-9359-2054
Scardamaglia, Annarita
Li, Dianfan
Kinoshita, Taroh https://orcid.org/0000-0001-7166-7257
Maroofian, Reza https://orcid.org/0000-0001-6763-1542
Murakami, Yoshiko
Campeau, Philippe M. https://orcid.org/0000-0001-9713-7107
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Article History
Received: 19 January 2025
Revised: 26 March 2025
Accepted: 23 July 2025
First Online: 17 September 2025
Competing interests
: We declare that the authors do not have any conflict of interest, and all have read and approved the final manuscript.
: The study protocol was approved by CHU Sainte-Justine Research Ethics Board (#MP-21-2016-962). Samples were collected from probands and families after written informed consent was obtained from the parents or legal guardians, and the data was de-identified. A written medical photography consent was obtained from the parents of P6, P9, P10, P11, and P12.
