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Costantini, Alice1; Alm, Jessica J.1; Tonelli, Francesca2; Valta, Helena3; Huber, Céline4; Tran, Anh N.5; Daponte, Valentina2; Kirova, Nadi1; Kwon, Yong‐Uk6; Bae, Jung Yun7; Chung, Woo Yeong8; Tan, Shengjiang9,10,11; Sznajer, Yves12; Nishimura, Gen13; Näreoja, Tuomas5; Warren, Alan J.9,10,11; Cormier‐Daire, Valérie4; Kim, Ok‐Hwa14; Forlino, Antonella2; Cho, Tae‐Joon15; Mäkitie, Outi1,3,16,17
Novel RPL13 variants and variable clinical expressivity in a human ribosomopathy with spondyloepimetaphyseal dysplasia
J Bone Miner Res. February 2021;​36(2):​283-297