Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review.
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| Title: | Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review. |
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| Authors: | Tian A; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.; Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan, 430030, China.; Hubei Provincial Clinical Research Center for Children's Growth and Development and Metabolic Diseases, Wuhan, 430030, China., Li S; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.; Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan, 430030, China.; Hubei Provincial Clinical Research Center for Children's Growth and Development and Metabolic Diseases, Wuhan, 430030, China., Liang F; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.; Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan, 430030, China.; Hubei Provincial Clinical Research Center for Children's Growth and Development and Metabolic Diseases, Wuhan, 430030, China., Yao M; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.; Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan, 430030, China.; Hubei Provincial Clinical Research Center for Children's Growth and Development and Metabolic Diseases, Wuhan, 430030, China., Mostafavi N; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.; Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan, 430030, China.; Hubei Provincial Clinical Research Center for Children's Growth and Development and Metabolic Diseases, Wuhan, 430030, China., Li Y; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.; Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan, 430030, China.; Hubei Provincial Clinical Research Center for Children's Growth and Development and Metabolic Diseases, Wuhan, 430030, China., Luo X; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. xpluo@tjh.tjmu.edu.cn.; Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan, 430030, China. xpluo@tjh.tjmu.edu.cn.; Hubei Provincial Clinical Research Center for Children's Growth and Development and Metabolic Diseases, Wuhan, 430030, China. xpluo@tjh.tjmu.edu.cn., Zhang C; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. caizhang@tjh.tjmu.edu.cn.; Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan, 430030, China. caizhang@tjh.tjmu.edu.cn.; Hubei Provincial Clinical Research Center for Children's Growth and Development and Metabolic Diseases, Wuhan, 430030, China. caizhang@tjh.tjmu.edu.cn. |
| Source: | Italian journal of pediatrics [Ital J Pediatr] 2025 Jul 05; Vol. 51 (1), pp. 209. Date of Electronic Publication: 2025 Jul 05. |
| Publication Type: | Journal Article; Review; Case Reports |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1824-7288 |
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| DOI: | 10.1186/s13052-025-02067-8 |
