AUTHOR=Xu Peiwen , Li Ruirui , Huang Sexin , Sun Menghan , Liu Jiaolong , Niu Yuping , Zou Yang , Li Jie , Gao Ming , Li Xiaolei , Gao Xuan , Gao Yuan TITLE=A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly JOURNAL=Frontiers in Genetics VOLUME=11 YEAR=2020 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00143 DOI=10.3389/fgene.2020.00143 ISSN=1664-8021 ABSTRACT=
Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide. CCA is characterized by arachnodactyly, camptodactyly, the contracture of major joints, scoliosis, pectus deformities, and crumpled ears. Mutations in