Article
Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.
Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2016
Liu Yi, Song Lijie, Ma Doudou, Lv Fang, Xu Xiaojie, Wang Jianyi, Xia Weibo, Jiang Yan, Wang Ou, Song Yuwen, Xing Xiaoping, Asan, Li Mei
Abstract excerpt
BACKGROUNDS: Osteogenesis imperfecta (OI) is a rare inherited disease characterized by increased bone fragility and vulnerability to fractures. Recently, WNT1 is identified as a new candidate gene for OI, here we detect pathogenic mutations in WNT1 and analyze the genotype-phenotype association in four Chinese families with OI. METHODS: We designed a targeted next generation sequencing panel with known fourteen...
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