An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report
一名患有胱硫醚β-合成酶缺乏症、弯指-关节病-髋内翻-心包炎综合征和耳聋的成年患者:病例报告
期刊:Genetics and Molecular Biology
影响因子:1.3
doi:10.1590/1678-4685-GMB-2022-0335
Donis, Karina Carvalho; Kalil, Marco Antônio Baptista; Poswar, Fabiano; Kok, Fernando; Kohem, Charles Lubianca; Poloni, Soraia; Borsatto, Taciane; Vairo, Filippo Pinto E; Pinheiro, Franciele Cabral; Schwartz, Ida Vanessa Doederlein