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[A case of Zellweger syndrome caused by PEX13 gene variation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 25 Mar 2024

Dong S S, Huang X L, Chen Y J

Abstract excerpt

患儿　男，11月龄，因“抬头不稳、反应差8个月”入院，表现为抬头不稳、反应能力差、发育停滞、抽搐发作，患儿肝功能异常，父母为近亲婚配，基因检查示c.493G>C纯合变异，分别来源于表型正常父亲和母亲，临床确诊“Zellweger综合征”，予护肝、抗癫痫等治疗，好转出院。.

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Identifiers

PMID: 38527511
DOI: 10.3760/cma.j.cn112140-20231219-00441

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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