Dyskerin can thus intersect many cellular pathways and, although most of the underlying molecular mechanisms remain to be fully elucidated, its relevance is confirmed by the observation that loss‐of‐function causes two congenital ribosomapathies: DKCX (OMIM: #305000) [47] and Hoyeraal–Hreidarsson syndrome (HHS) [20, 48]. This evidence concerns the gene DKC1 and hypotrichosis 1.