Research advances in the clinical genetics of leukodystrophy in children / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 711-716, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-939652
ABSTRACT
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 collection of natural history and multimodal neuroimaging evaluation during development, also provides important information for subsequent genetic diagnosis. This article reviews LD from the perspective of clinical genetics, in order to improve the awareness of this disease among pediatricians in China.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Demyelinating Diseases
/
Neurodegenerative Diseases
/
High-Throughput Nucleotide Sequencing
/
Myelin Sheath
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2022
Type:
Article
Similar
MEDLINE
...
LILACS
LIS