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Article

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.

BMC pediatrics - 22 Apr 2026

Hu Ruolan, Li Jinrong, Yang Fan, Jiang Mingyan

Abstract excerpt

BACKGROUND: Mainzer-Saldino syndrome is a rare autosomal recessive ciliopathy characterized by cone-shaped epiphyses, chronic renal failure, and early-onset severe retinal dystrophy. Blastic plasmacytoid dendritic cell neoplasm is a rare hematologic malignancy. However, the association between these two diseases is unclear, and the coincidence of the two diseases has not been previously reported. CASE...

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Identifiers

PMID: 42021201
DOI: 10.1186/s12887-026-06868-6
PMCID: PMC13237966

Genes

IFT140

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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