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

• Главные авторы: Jing Chen (Автор), Qinqin Xiang (Автор), Xiao Xiao (Автор), Bocheng Xu (Автор), Hanbing Xie (Автор), He Wang (Автор), Mei Yang (Автор), Shanling Liu (Автор)
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• Опубликовано: BMC, 2022-07-01T00:00:00Z.
• Предметы: article
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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...