Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.
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| Title: | Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases. |
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| Authors: | Pu S; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China., Wang Z; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China., Tang X; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China., Wang D; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China., Yang X; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China., Jiang J; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China., Deng Y; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China., Xiang B; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China., Yang J; Transplantation Center, West China Hospital of Sichuan University, Chengdu, 610041, China., Wang X; Department of Plastic and Burn Surgery, Children's Hospital of ShanXi (Women Health Center of ShanXi), Taiyuan, China., Guo X; Department of Plastic and Burn Surgery, Children's Hospital of ShanXi (Women Health Center of ShanXi), Taiyuan, China., Sun M; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Wang B; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China. wangbin1766@163.com., Chen J; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China. jingchen@scu.edu.cn. |
| Source: | Human genetics [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1433-1444. Date of Electronic Publication: 2024 Oct 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-024-02709-7 |
