Early-onset Parkinson′s disease caused by 22q11.2 deletion: a case report / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 585-589, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-885466
ABSTRACT
Many pathogenic genes have been identified in early-onset Parkinson′s disease, but the early-onset Parkinson′s disease with 22q11.2 deletion has not been reported in Chinese. A case of early-onset Parkinson′s disease with 22q11.2 deletion was confirmed by whole-exome sequencing-based copy number variation detection in Fujian Medical University Union Hospital. This article reports its clinical characteristics and discusses its pathogenesis, diagnosis and treatment management.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Neurology
Year:
2021
Type:
Article
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