Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization

Biallelic mutations in WNT1 can give rise to a rare form of moderate to severe OI. Here we report on 12 children (age 2 to 16  years; 5 girls) with biallelic WNT1 mutations.

Source: Bone - June 20, 2018 Category: Orthopaedics Authors: Yanqin Lu, Xiuzhi Ren, Yanzhou Wang, Ghalib Bardai, Marc Sturm, Yunzhang Dai, Olaf Riess, Yao Zhang, Hu Li, Tianyou Li, Naixiang Zhai, Jian Zhang, Frank Rauch, Jinxiang Han Tags: Full Length Article Source Type: research