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Article

[Research advances in the clinical genetics of leukodystrophy in children].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Jun 2022

Huang Zhe-Lan, Zhou Wen-Hao

Abstract excerpt

Leukodystrophy (LD) is a group of genetic heterogeneous diseases characterized by primary abnormalities in glial cells and myelin sheath, and it is a common nervous system disease in children and has significant genotype-phenotype correlation. In recent years, the improvement in high-throughput sequencing has changed the diagnostic and therapeutic mode of LD, and elaborative phenotype analysis, such as the...

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Identifiers

PMID: 35762440
DOI: 10.7499/j.issn.1008-8830.2202020
PMCID: PMC9250391

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