Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly

por Li, An-Lei, He, Ji-Qiang, Zeng, Lei, Hu, Yi-Qiao, Wang, Min, Long, Jie-Yi, Chang, Si-Hua, Jin, Jie-Yuan, Xiang, Rong
Publicado 2023