Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family

• Main Authors: Jing Chen (Author), Qinqin Xiang (Author), Xiao Xiao (Author), Bocheng Xu (Author), Hanbing Xie (Author), He Wang (Author), Mei Yang (Author), Shanling Liu (Author)
• 格式: 圖書
• 出版: BMC, 2022-07-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes. Congenital contractural arachnodactyly syndrome (CCA) is an autosomal dominant hereditary disease of connective tissue. To da...