Clinical and genetic profiles of 985 Chinese families with skeletal dysplasia  

作　　者：Shanshan Li Shanshan Lyu Wenzhen Fu Yunqiu Hu Hua Yue Lin Chen Zhenlin Zhang 

机构地区：[1]Shanghai Clinical Research Center of Bone Disease,Department of Osteoporosis and Bone Disease,Shanghai Jiao Tong University of Medicine Affiliated Sixth People’s Hospital,Shanghai 200233,China [2]Department of Endocrinology,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing,Jiangsu 210000,China [3]Department of Wound Repair and Rehabilitation Medicine,State Key Laboratory of Trauma,Burns and Combined Injury,Daping Hospital,Army Medical University,Chongqing 400042,China

出　　处：《Chinese Medical Journal》2023年第12期1485-1487,共3页中华医学杂志（英文版）

基　　金：supported by the National Key Research and Development Program of China(No.2018YFA0800801);the National Basic Research Program of China(No.2014CB942903);the National Natural Science Foundation of China(NSFC)(Nos.81900807,81770871,81770872,81770874);the Clinical Science and Technology Innovation Project of Shanghai Shenkang Hospital Development Center(No.SHDC12018120);Shanghai Key Clinical Center for Metabolic Disease,Shanghai Health Commission Grant(No.2017ZZ01013);Shanghai Municipal Key Clinical Specialty.

摘　　要：To the Editor:Skeletal dysplasia is a group of clinical and genetic heterogeneous disorders with primary involvement of the musculoskeletal system,including bone,cartilage,tendons,ligaments,and muscles,and is usually characterized by short stature,motion limitation,or fragility fractures,sometimes complicated with extra-skeletal phenotypes.

关 键 词：SKELETAL DYSPLASIA INVOLVEMENT 

分 类 号：R68[医药卫生—骨科学]