Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.
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| Title: | Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study. |
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| Authors: | Li Q; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Chang G; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Huang Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Li X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Yu T; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Ding Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Wang Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Feng B; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Ying L; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Chen Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China., Li J; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China. ljuan_scmc@126.com., Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China. wangxiumin1019@126.com. |
| Source: | European journal of pediatrics [Eur J Pediatr] 2026 May 28; Vol. 185 (6). Date of Electronic Publication: 2026 May 28. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42207311 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Li+Q%22">Li Q</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Chang+G%22">Chang G</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Huang+Y%22">Huang Y</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Li+X%22">Li X</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Yu+T%22">Yu T</searchLink>; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Ding+Y%22">Ding Y</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Feng+B%22">Feng B</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Ying+L%22">Ying L</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China. ljuan&#95;scmc@126.com.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China. wangxiumin1019@126.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227603873%22">European journal of pediatrics</searchLink> [Eur J Pediatr] 2026 May 28; Vol. 185 (6). <i>Date of Electronic Publication: </i>2026 May 28. – 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>7603873 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1076 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406199%22">03406199 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Pediatr <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42207311 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00431-026-07094-z Languages: – Code: eng Text: English Titles: – TitleFull: Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Li Q – PersonEntity: Name: NameFull: Chang G – PersonEntity: Name: NameFull: Huang Y – PersonEntity: Name: NameFull: Li X – PersonEntity: Name: NameFull: Yu T – PersonEntity: Name: NameFull: Ding Y – PersonEntity: Name: NameFull: Wang Y – PersonEntity: Name: NameFull: Feng B – PersonEntity: Name: NameFull: Ying L – PersonEntity: Name: NameFull: Chen Y – PersonEntity: Name: NameFull: Li J – PersonEntity: Name: NameFull: Wang X IsPartOfRelationships: – BibEntity: Dates: – D: 28 M: 05 Text: 2026 May 28 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1432-1076 Numbering: – Type: volume Value: 185 – Type: issue Value: 6 Titles: – TitleFull: European journal of pediatrics Type: main |
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