TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

Author:

Chen Weisheng1234,Lin Jiachen123,Wang Lianlei123,Li Xiaoxin35,Zhao Sen13,Liu Jiaqi136,Akdemir Zeynep C.4,Zhao Yanxue13,Du Renqian4,Ye Yongyu37,Song Xiaofei4,Zhang Yuanqiang123,Yan Zihui123,Yang Xinzhuang35,Lin Mao123,Shen Jianxiong13,Wang Shengru1,Gao Na1,Yang Ying1,Liu Ying1,Li Wenli1,Liu Jia1,Zhang Na1,Yang Xu1,Xu Yuan1,Zhang Jianguo13,Delgado Mauricio R.89,Posey Jennifer E.4ORCID,Qiu Guixing1310,Rios Jonathan J.1112,Liu Pengfei413,Wise Carol A.1112,Zhang Feng14ORCID,Wu Zhihong3510,Lupski James R.4151617ORCID,Wu Nan13410ORCID

Affiliation:

1. Department of Orthopaedic SurgeryPeking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China

2. Graduate School of Peking Union Medical College Beijing China

3. Beijing Key Laboratory for Genetic Research of Skeletal Deformity Beijing China

4. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

5. Department of Central LaboratoryPeking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China

6. Department of Breast Surgical OncologyNational Cancer Center/Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China

7. Department of Orthopaedic SurgeryFirst Affiliated Hospital of Sun Yat‐sen University Guangzhou China

8. Department of Neurology and NeurotherapeuticsUniversity of Texas Southwestern Medical Center at Dallas Dallas Texas

9. Neurology DepartmentTexas Scottish Rite Hospital Dallas Texas

10. Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences Beijing China

11. Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children Dallas Texas

12. McDermott Center for Human Growth and Development, Department of Pediatrics and Department of Orthopaedic SurgeryUniversity of Texas Southwestern Medical Center at Dallas Dallas Texas

13. Baylor Genetics Laboratory Houston Texas

14. Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University Shanghai China

15. Department of PediatricsBaylor College of Medicine Houston Texas

16. Texas Children's Hospital Houston Texas

17. Human Genome Sequencing Center, Baylor College of Medicine Houston Texas

Funder

National Natural Science Foundation of China

Natural Science Foundation of Beijing Municipality

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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