P. R. and M. F. , are scientists from Centre National de la Recherche Scientifique (CNRS). H.E. and F.P. were supported by grants from the Télévie/FNRS and FRIA/FNRS. A.D. is a scientist from the FNRS. Author contributions PR initiated the project and performed whole exome sequencing analysis. PR and AD supervised and coordinated the project. PF, FBB, and MP identified affected patients. MB, LK, and PR performed Sanger sequencing and cloning, CE12-0001-DBA Multigenes), and the EuroDBA project is funded by the ERA-NET program E-RAR3

H. E. Mb, . Lk, A. D. Fp, P. Ko, P. Pf et al., M-FO' and P-EG performed rRNA biogenesis studies. PR and F L-V conceived and generated the PARN KO mouse model. IC performed structural analysis. AD, HE, and FP performed qRT-PCR analyses of TERRA and telomere-related gene transcripts (with WB) and sip53 experiments. hTR FISH experiment was performed in AD's laboratory. PR and AD prepared figures and wrote the manuscript, The Authors EMBO Molecular Medicine, vol.11, pp.10201-2019, 2019.

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