骨研究（英文版）2024，Vol.12Issue(4)：952-965,14.DOI:10.1038/s41413-024-00364-2
A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass
A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass
Shanshan Li 1Baojie Li 2Weiguo Zou 3Zhenlin Zhang 1Rui Shao 4Shufa Li 5Jiao Zhao 1Qi Deng 2Ping Li 2Zhanying Wei 1Shuqin Xu 1Lin Chen6
作者信息
- 1. Department of Osteoporosis and Bone Diseases,Shanghai Clinical Research Center of Bone Diseases,Shanghai Jiao Tong University of Medicine Affiliated Sixth People's Hospital,Shanghai,China
- 2. Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders,Bio-X Institutes,Ministry of Education,Shanghai Jiao Tong University,Shanghai,China
- 3. Department of Orthopedic Surgery and Shanghai Institute of Microsurgery on Extremities,Shanghai Jiao Tong University of Medicine Affiliated Sixth People's Hospital,Shanghai,China||Key Laboratory of RNA Innovation,Science and Engineering,CAS Center for Excellence in Molecular Cell Science,Shanghai Institute of Biochemistry and Cell Biology,University of Chinese Academy of Sciences,Chinese Academy of Sciences,Shanghai,China||Hainan Academy of Medical Sciences,Hainan Medical University,Hainan,China
- 4. Department of Orthopedic Surgery and Shanghai Institute of Microsurgery on Extremities,Shanghai Jiao Tong University of Medicine Affiliated Sixth People's Hospital,Shanghai,China
- 5. Department of Endocrinology and Metabolism,The Affiliated Hospital of Qingdao University,Qingdao,Shandong,China
- 6. Department of Wound Repair and Rehabilitation,State Key Laboratory of Trauma,Burns and Combined Injury,Trauma Center,Research Institute of Surgery,Daping Hospital,Army Medical University,Chongqing,China
- 折叠
引用本文复制引用
Shanshan Li,Baojie Li,Weiguo Zou,Zhenlin Zhang,Rui Shao,Shufa Li,Jiao Zhao,Qi Deng,Ping Li,Zhanying Wei,Shuqin Xu,Lin Chen..A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass[J].骨研究（英文版）,2024,12(4):952-965,14.基金项目
We are very grateful to all the subjects for their excellent collaboration.We acknowledge technical assistance from Shanghai Genesky Biotechnology,and Shenzhen Huada Gene Research Institute.This work was funded by the National Key Research and Development Program of China(2018YFA0800801),the National Basic Research Program of China(2014CB942903),the National Natural Science Foundation of China(81900807),Shanghai Research Center for Endocrine and Metabolic Diseases(2022ZZ01002). （2018YFA0800801）
