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

• Главные авторы: Jianlong Zhuang (Автор), Chunnuan Chen (Автор), Yu'e Chen (Автор), Qi Luo (Автор), Yuanbai Wang (Автор), Yuying Jiang (Автор), Shuhong Zeng (Автор), Yingjun Xie (Автор), Dongmei Chen (Автор)
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• Опубликовано: Frontiers Media S.A., 2022-04-01T00:00:00Z.
• Предметы: article
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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...