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A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

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Title: A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.
Authors: Zhu T; Department of Anesthesia and Surgery, Wenzhou Central Hospital of Wenzhou Medical University, Wenzhou, Zhejiang Province, China.; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn., Shi J; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.; Ultrasound Department, Shaoxing People's Hospital, Shaoxing, Zhejiang, China., Li J; Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn., Zhou T; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.; Department of Pediatrics, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, Zhejiang, China, wmu.edu.cn., Fu X; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn., Xu F; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn., Gu C; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn., Wang D; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn., Wu R; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn., Liu L; Institute of Life Sciences, College of Life and Environmental Sciences, Wenzhou University, Wenzhou, Zhejiang, China, wzu.edu.cn., Shen J; Institute of Life Sciences, College of Life and Environmental Sciences, Wenzhou University, Wenzhou, Zhejiang, China, wzu.edu.cn., Wang D; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.; Consortium for Infection and Innovation (CII), The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.
Source: Human mutation [Hum Mutat] 2026 Apr 24; Vol. 2026, pp. 8024677. Date of Electronic Publication: 2026 Apr 24 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.
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  Data: <searchLink fieldCode="AU" term="%22Zhu+T%22">Zhu T</searchLink>; Department of Anesthesia and Surgery, Wenzhou Central Hospital of Wenzhou Medical University, Wenzhou, Zhejiang Province, China.; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.<br /><searchLink fieldCode="AU" term="%22Shi+J%22">Shi J</searchLink>; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.; Ultrasound Department, Shaoxing People's Hospital, Shaoxing, Zhejiang, China.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.<br /><searchLink fieldCode="AU" term="%22Zhou+T%22">Zhou T</searchLink>; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.; Department of Pediatrics, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, Zhejiang, China, wmu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Fu+X%22">Fu X</searchLink>; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.<br /><searchLink fieldCode="AU" term="%22Xu+F%22">Xu F</searchLink>; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.<br /><searchLink fieldCode="AU" term="%22Gu+C%22">Gu C</searchLink>; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.<br /><searchLink fieldCode="AU" term="%22Wang+D%22">Wang D</searchLink>; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.<br /><searchLink fieldCode="AU" term="%22Wu+R%22">Wu R</searchLink>; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.<br /><searchLink fieldCode="AU" term="%22Liu+L%22">Liu L</searchLink>; Institute of Life Sciences, College of Life and Environmental Sciences, Wenzhou University, Wenzhou, Zhejiang, China, wzu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Shen+J%22">Shen J</searchLink>; Institute of Life Sciences, College of Life and Environmental Sciences, Wenzhou University, Wenzhou, Zhejiang, China, wzu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Wang+D%22">Wang D</searchLink>; Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.; Consortium for Infection and Innovation (CII), The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China, wzhospital.cn.
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        Value: 10.1155/humu/8024677
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      – TitleFull: A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.
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              Text: 2026 Apr 24
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