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Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders

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 wer...

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Detalles Bibliográficos
Autores principales: Dong, Liling, Shang, Li, Liu, Caiyan, Mao, Chenhui, Huang, Xinying, Chu, Shanshan, Peng, Bin, Cui, Liying, Gao, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658925/
https://www.ncbi.nlm.nih.gov/pubmed/37981684
http://dx.doi.org/10.1186/s13052-023-01555-z