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Article

[A case report of infantile autoimmune diabetes caused by RNU4ATAC variation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Aug 2026

Yin H, Song Y, Huang S Y, Wang T Q, Liu Z Q, Cao B Y

Abstract excerpt

患儿，女，8月龄，于7月龄时出现血糖持续升高，诊断为糖尿病，同时存在特殊面容，身材矮小，智力、运动发育落后，反复感染等表现，家系全外显子测序提示RNU4ATAC基因在n.18（exon1）G>A和n.13（exon1）C>T位点存在复合杂合变异，该变异导致次要剪接体的重要组分U4atac小核RNA功能异常，进而引发Roifman综合征。.

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Identifiers

PMID: 42527143
DOI: 10.3760/cma.j.cn112140-20260424-00347

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

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