Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5509709 | Clinica Chimica Acta | 2017 | 24 Pages |
Abstract
We report a rare pedigree with an autosomal recessive osteogenesis imperfecta type IX (OI-IX) caused by two novel PPIB mutations identified for the first time in China. The current study expands our knowledge of PPIB mutations and their associated phenotypes, and provides new information on the genetic defects associated with this disease for clinical diagnosis.
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Authors
Yu Jiang, Jingxin Pan, Dongwei Guo, Wei Zhang, Jie Xie, Zishui Fang, Chunmiao Guo, Qun Fang, Weiying Jiang, Yibin Guo,