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Article

Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.

Italian journal of pediatrics - 19 Nov 2023

Dong Liling, Shang Li, Liu Caiyan, Mao Chenhui, Huang Xinying, Chu Shanshan, Peng Bin, Cui Liying, Gao Jing

Abstract excerpt

BACKGROUND: The pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis. However, there are few studies on the clinical and genetic spectrum of Chinese pediatric genetic white matter disorders. METHODS: The participants were enrolled from the cohort of Peking Union Medical College Hospital. They all received history collection, brain MRI...

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Identifiers

PMID: 37981684
DOI: 10.1186/s13052-023-01555-z
PMCID: PMC10658925

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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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