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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39446226 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pu+S%22">Pu S</searchLink>; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China.<br /><searchLink fieldCode="AU" term="%22Wang+Z%22">Wang Z</searchLink>; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Tang+X%22">Tang X</searchLink>; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China.<br /><searchLink fieldCode="AU" term="%22Wang+D%22">Wang D</searchLink>; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China.<br /><searchLink fieldCode="AU" term="%22Yang+X%22">Yang X</searchLink>; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China.<br /><searchLink fieldCode="AU" term="%22Jiang+J%22">Jiang J</searchLink>; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China.<br /><searchLink fieldCode="AU" term="%22Deng+Y%22">Deng Y</searchLink>; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China.<br /><searchLink fieldCode="AU" term="%22Xiang+B%22">Xiang B</searchLink>; Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China.<br /><searchLink fieldCode="AU" term="%22Yang+J%22">Yang J</searchLink>; Transplantation Center, West China Hospital of Sichuan University, Chengdu, 610041, China.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Department of Plastic and Burn Surgery, Children's Hospital of ShanXi (Women Health Center of ShanXi), Taiyuan, China.<br /><searchLink fieldCode="AU" term="%22Guo+X%22">Guo X</searchLink>; Department of Plastic and Burn Surgery, Children's Hospital of ShanXi (Women Health Center of ShanXi), Taiyuan, China.<br /><searchLink fieldCode="AU" term="%22Sun+M%22">Sun M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wang+B%22">Wang B</searchLink>; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China. wangbin1766@163.com.<br /><searchLink fieldCode="AU" term="%22Chen+J%22">Chen J</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1433-1444. <i>Date of Electronic Publication: </i>2024 Oct 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39446226 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-024-02709-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1433 Titles: – TitleFull: Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pu S – PersonEntity: Name: NameFull: Wang Z – PersonEntity: Name: NameFull: Tang X – PersonEntity: Name: NameFull: Wang D – PersonEntity: Name: NameFull: Yang X – PersonEntity: Name: NameFull: Jiang J – PersonEntity: Name: NameFull: Deng Y – PersonEntity: Name: NameFull: Xiang B – PersonEntity: Name: NameFull: Yang J – PersonEntity: Name: NameFull: Wang X – PersonEntity: Name: NameFull: Guo X – PersonEntity: Name: NameFull: Sun M – PersonEntity: Name: NameFull: Wang B – PersonEntity: Name: NameFull: Chen J IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2024 Dec Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 143 – Type: issue Value: 12 Titles: – TitleFull: Human genetics Type: main |
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