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

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

Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants in FBN2 have been shown to cause CCA. Fibrill...

Full description

Bibliographic Details
Main Authors: An-Lei Li, Ji-Qiang He, Lei Zeng, Yi-Qiao Hu, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Rong Xiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
FBN2
congenital contractural arachnodactyly
arthrogryposis
disulfide bond
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1035887/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1035887/full

Similar Items