| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1965082 | Clinica Chimica Acta | 2016 | 9 Pages |
Abstract
We reported four novel heterozygous variants and confirmed a previous reported WNT1 mutation in four Chinese families with a clinical diagnosis of OI. Our study expanded OI spectrum and confirmed moderate to severe bone fragility induced by WNT1 defects.
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Authors
Yi Liu, Lijie Song, Doudou Ma, Fang Lv, Xiaojie Xu, Jianyi Wang, Weibo Xia, Yan Jiang, Ou Wang, Yuwen Song, Xiaoping Xing, Asan Asan, Mei Li,