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. |
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| 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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| ISSN: | 1098-1004 |
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| DOI: | 10.1155/humu/8024677 |
