An-Lei Li Ji-Qiang He Lei Zeng Yi-Qiao Hu Min Wang Jie-Yi Long Si-Hua Chang Jie-Yuan Jin Rong Xiang
10.3389/fgene.2023.1035887
Front Genet
2023 Mar 3;14:1035887.
fbn2 arthrogryposis congenital contractural arachnodactyly disulfide bond whole-exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36936417/
Case Reports
PMC10020613
36936417
Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly
2023