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Article History

Accepted: 29 May 2022

First Online: 7 July 2022

Declarations

:

: This research was funded by the Israel Science Foundation (grant no. 2034/18) awarded to OSB, and supported in part by the Morris Kahn Family Foundation; by a scholarship to YY from the Foulkes foundation; and by the National Knowledge Center for Rare/Orphan Diseases of the Israel Ministry of Science, Technology and Space, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

: Yuval Yogev, Jacob Bistritzer, Yair Sadaka, Analia Michaelovsky, Yuval Cavari, Yael Feinstein, Munir Abu-Madegem, Yakov Fellig, Ohad Wormser, Max Drabkin, Daniel Halperin, and Ohad S. Birk declare no conflicts of interest.

: Studies of patients and unaffected family members were conducted following SUMC IRB approval.

: Studies of patients and unaffected family members were conducted after a thorough description of the study, goals, benefits and risks, and after obtaining written informed consent from patients or guardians.

: The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available because they contain information that could compromise research participant privacy/consent.

: Not applicable.

: YY and OSB initiated the study, contributed to its conception and design, and drafted the manuscript. YY, OW, MD and DH contributed to the design of this study, acquired, and analyzed the data, and had access to and verified the underlying data. YY, JB, YS, AM, YC, YF, MAM, YF and OSB contributed to the clinical data. All authors critically reviewed and approved the manuscript. OSB supervised the research process.