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Contributors Data collection: SP-S, GB, SB-D and FG. Laboratory investigations: GB, AL and J-MF. Genetic counselling and patient care: LM, MB, CL and LB. Obtained funding: TF. Data interpretation and drafting of the manuscript: TF, SP-S and GB.
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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