A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene
一例轻微的常染色体隐性骨硬化症，其临床表现酷似显性骨硬化症，涉及CLCN7基因的纯合深内含子变异
期刊:Calcified Tissue International
影响因子:3.2
doi:10.1007/s00223-022-00988-8
Hofstaetter, Jochen G; Atkins, Gerald J; Kato, Hajime; Kogawa, Masakazu; Blouin, Stéphane; Misof, Barbara M; Roschger, Paul; Evdokiou, Andreas; Yang, Dongqing; Solomon, Lucian B; Findlay, David M; Ito, Nobuaki
