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Article

[A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2016

Wang Jinling, Wu Wei, Chen Xuefeng, Zhang Li, Wang Xiumin, Dong Guanping

Abstract excerpt

OBJECTIVE: To investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy. METHODS: Clinical data of the patient was collected. The coding regions of PLA2G6 gene was subjected to Sanger sequencing using blood DNA from the patient and her parents. RESULTS: The patient has presented with psychomotor regression and hypotonia, followed by development...

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Identifiers

PMID: 26829737
DOI: 10.3760/cma.j.issn.1003-9406.2016.01.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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