Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Han JH, Ryan G, Guy A, Liu L, Quinodoz M, Helbling I, Lai-Cheong JE, Genomics England Research Consortium, Barwell J, Folcher M, et al. Hum Mol Genet. 2022 Jun 22; 31(12):1970-1978.