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