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Han, J. H., Ryan, G., Guy, A., Liu, L., Quinodoz, M., Helbling, I., Lai-Cheong, J. E., , , Barwell, J., Folcher, M., McGrath, J. A., Moss, C., & Rivolta, C. (2022). mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Human molecular genetics, 31(12), 1970–1978. http://access.bl.uk/ark:/81055/vdc_100158014355.0x000033