基因与疾病（英文）2025，Vol.12Issue(6)：42-46,5.DOI:10.1016/j.gendis.2025.101541
Genetic complexity underlies clinical heterogeneity:YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human
Genetic complexity underlies clinical heterogeneity:YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human
Xinxin Dong 1Xiwen Gu 2Miao Yu 3Zhaoyang Jia 4Jinye Bai 4Jing Zhang 4Shengnan Ling 4Limin Guan 5Yi Lu 5Dong Han3
作者信息
- 1. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research,Research Center of Stomatology,College of Stomatology,Xi'an Jiaotong University,Xi'an,Shaanxi 710004,China||Department of Prosthodontics,College of Stomatology,Xi'an Jiaotong University,Xi'an,Shaanxi 710004,China||Department of Stomatology,Xi'an Children's Hospital,Xi'an,Shaanxi 710003,China
- 2. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research,Research Center of Stomatology,College of Stomatology,Xi'an Jiaotong University,Xi'an,Shaanxi 710004,China||State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers and Department of Pathology,Xijing Hospital and School of Basic Medicine,Fourth Military Medical University,Xi'an,Shaanxi 710000,China
- 3. Department of Prosthodontics,Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Central Laboratory,Peking University School and Hospital of Stomatology,Beijing 100081,China
- 4. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research,Research Center of Stomatology,College of Stomatology,Xi'an Jiaotong University,Xi'an,Shaanxi 710004,China
- 5. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research,Research Center of Stomatology,College of Stomatology,Xi'an Jiaotong University,Xi'an,Shaanxi 710004,China||Department of Prosthodontics,College of Stomatology,Xi'an Jiaotong University,Xi'an,Shaanxi 710004,China
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Xinxin Dong,Xiwen Gu,Miao Yu,Zhaoyang Jia,Jinye Bai,Jing Zhang,Shengnan Ling,Limin Guan,Yi Lu,Dong Han..Genetic complexity underlies clinical heterogeneity:YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human[J].基因与疾病（英文）,2025,12(6):42-46,5.基金项目
This study was supported by the National Natural Science Foundation of China(No.32070690 to X.G.)and the Natural Science Foundation of Shaanxi Province,China(No.2020JM-412 to X.G.). （No.32070690 to X.G.）
