A novel mutation of IFT140 in a preschool child with Mainzer-Saldino syndrome accompanied by rare tumor blastic plasmacytoid dendritic cell neoplasm: a case report.
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| Title: | A novel mutation of IFT140 in a preschool child with Mainzer-Saldino syndrome accompanied by rare tumor blastic plasmacytoid dendritic cell neoplasm: a case report. |
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| Authors: | Hu R; Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 3rd Section Renmin South Road, Chengdu, Sichuan, 610041, China.; West China School of Medicine, Sichuan University, Chengdu, Sichuan, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, 610041, China., Li J; Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 3rd Section Renmin South Road, Chengdu, Sichuan, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, 610041, China., Yang F; Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 3rd Section Renmin South Road, Chengdu, Sichuan, 610041, China. yangfan_scu@scu.edu.cn.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, 610041, China. yangfan_scu@scu.edu.cn., Jiang M; Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 3rd Section Renmin South Road, Chengdu, Sichuan, 610041, China. jiangmy0904@163.com.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, 610041, China. jiangmy0904@163.com. |
| Source: | BMC pediatrics [BMC Pediatr] 2026 Apr 22; Vol. 26 (1). Date of Electronic Publication: 2026 Apr 22. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42021201 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel mutation of IFT140 in a preschool child with Mainzer-Saldino syndrome accompanied by rare tumor blastic plasmacytoid dendritic cell neoplasm: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Hu+R%22">Hu R</searchLink>; Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 3rd Section Renmin South Road, Chengdu, Sichuan, 610041, China.; West China School of Medicine, Sichuan University, Chengdu, Sichuan, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, 610041, China.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 3rd Section Renmin South Road, Chengdu, Sichuan, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, 610041, China.<br /><searchLink fieldCode="AU" term="%22Yang+F%22">Yang F</searchLink>; Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 3rd Section Renmin South Road, Chengdu, Sichuan, 610041, China. yangfan&#95;scu@scu.edu.cn.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, 610041, China. yangfan&#95;scu@scu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Jiang+M%22">Jiang M</searchLink>; Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20 3rd Section Renmin South Road, Chengdu, Sichuan, 610041, China. jiangmy0904@163.com.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, 610041, China. jiangmy0904@163.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100967804%22">BMC pediatrics</searchLink> [BMC Pediatr] 2026 Apr 22; Vol. 26 (1). <i>Date of Electronic Publication: </i>2026 Apr 22. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967804 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2431 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712431%22">14712431 </searchLink><i>NLM ISO Abbreviation: </i>BMC Pediatr <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42021201 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12887-026-06868-6 Languages: – Code: eng Text: English Titles: – TitleFull: A novel mutation of IFT140 in a preschool child with Mainzer-Saldino syndrome accompanied by rare tumor blastic plasmacytoid dendritic cell neoplasm: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Hu R – PersonEntity: Name: NameFull: Li J – PersonEntity: Name: NameFull: Yang F – PersonEntity: Name: NameFull: Jiang M IsPartOfRelationships: – BibEntity: Dates: – D: 22 M: 04 Text: 2026 Apr 22 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1471-2431 Numbering: – Type: volume Value: 26 – Type: issue Value: 1 Titles: – TitleFull: BMC pediatrics Type: main |
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