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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.
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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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40618129
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review.
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  Data: <searchLink fieldCode="AU" term="%22Tian+A%22">Tian A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Li+S%22">Li S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Liang+F%22">Liang F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Yao+M%22">Yao M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mostafavi+N%22">Mostafavi N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Luo+X%22">Luo X</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zhang+C%22">Zhang C</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101510759%22">Italian journal of pediatrics</searchLink> [Ital J Pediatr] 2025 Jul 05; Vol. 51 (1), pp. 209. <i>Date of Electronic Publication: </i>2025 Jul 05.
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  Data: Journal Article; Review; Case Reports
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101510759 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1824-7288 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217208424%22">17208424 </searchLink><i>NLM ISO Abbreviation: </i>Ital J Pediatr <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40618129
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1186/s13052-025-02067-8
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      – Code: eng
        Text: English
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      Pagination:
        StartPage: 209
    Titles:
      – TitleFull: Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review.
        Type: main
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            NameFull: Tian A
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            NameFull: Li S
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            – D: 05
              M: 07
              Text: 2025 Jul 05
              Type: published
              Y: 2025
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            – TitleFull: Italian journal of pediatrics
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