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Contributors MR did the experiments and contributed to the writing of some sections of the manuscript. RS completed the writing and supervised the work. WB referred the patient and contributed to the writing of the clinical description section. US performed the FISH analysis. EB and JM filtered raw data of exome sequencing.
Funding This work was supported by the “Fondation Grand Defi Pierre Lavoie” to RS.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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