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.
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
Description
ISSN:1471-2431
DOI:10.1186/s12887-026-06868-6