Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

• Main Authors: Jianlong Zhuang (Author), Chunnuan Chen (Author), Yu'e Chen (Author), Qi Luo (Author), Yuanbai Wang (Author), Yuying Jiang (Author), Shuhong Zeng (Author), Yingjun Xie (Author), Dongmei Chen (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundOsteogenesis imperfecta (OI) is a rare heterogeneous disorder typically featured by fragile bones and susceptibility to fracture. The aim of the present study was to explore the genetic etiology of familial recurrent OI and the genotype-phenotype correlation.MethodsKaryotyping, chromosomal...