Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia
患有脊椎骨骺端发育不良的人类核糖体病患者中出现新型 RPL13 变异和不同的临床表现
期刊:Journal of Bone and Mineral Research
影响因子:5.1
doi:10.1002/jbmr.4177
Alice Costantini, Jessica J Alm, Francesca Tonelli #, Helena Valta #, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlin