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Article

[Clinical and genetic characteristics of children with Leigh syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Mar 2017

Fang F, Shen Y, Shen D M, Liu Z M, Ding C H, Zhang W C, Sun S Z, Lyu J L, Han T L, Wang X H, Zhang W H, Yang X Y, Li J W, Wu H S

Abstract excerpt

Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children's Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed...

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Source

Identifiers

PMID: 28273704
DOI: 10.3760/cma.j.issn.0578-1310.2017.03.008

Genes

NDUFAF5
NDUFAF6
NDUFV1
SURF1
COQ7
NDUFS1
PDHA1

Provenance

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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