Article
Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX.
Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2017
Jiang Yu, Pan Jingxin, Guo Dongwei, Zhang Wei, Xie Jie, Fang Zishui, Guo Chunmiao, Fang Qun, Jiang Weiying, Guo Yibin
Abstract excerpt
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic skeletal disorder characterized by increased bone fragility and vulnerability to fractures. PPIB is identified as a candidate gene for OI-IX, here we detect two pathogenic mutations in PPIB and analyze the genotype-phenotype correlation in a Chinese family with OI. METHODS: Next-generation sequencing (NGS) was used to screen the whole exome of the parents...
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