Saito-Hakoda A, Kikuchi A, Takahashi T, Yokoyama Y, Himori N, Adachi M, Ikeda R, Nomura Y, Takayama J, Kawashima J, Katsuoka F, Fujishima F, Yamaguchi T, Ito A, Hanita T, Kanno J, Aizawa T, Nakazawa T, Kawase T, Tamiya G, Yamamoto M, Fujiwara I, Kure S

Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).

J Bone Miner Metab 41:193-202 (2023)
DOI:10.1007/s00774-022-01392-w

Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

Nat Genet 24:45-8 (2000)
DOI:10.1038/71667