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Article

[Mainzer-Saldino syndrome caused by IFT140 gene variation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2019

Zhao X, Rong Z H, Li Y, Jiang L J, Su Q X, Dou Z Y

Abstract excerpt

1例主诉为身高增长缓慢4年余，发现肾功能异常1 d患儿，有慢性肾功能不全，视网膜色素变性，指骨锥形骨骺，股骨近端轻度的放射学异常，身材矮小及胸廓异常改变等临床特征，结合高通量二代测序技术，明确诊断为Mainzer-Saldino综合征，由IFT140基因复合杂合变异引起，为2个未报道的新发变异。.

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Identifiers

PMID: 31665845
DOI: 10.3760/cma.j.issn.0578-1310.2019.11.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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