A case of neonatal Kleefstra syndrome with SLC2A1 gene mutation / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 1027-1029, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-907895
ABSTRACT
The clinical data of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation in the Department of Newborn Infants, Children′s Hospital of Nanjing Medical University were retrospectively analyzed.The laboratory examination, genetic characteristics, diagnosis and treatment progress were analyzed.This is the first report of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation, presenting with an early-onset epilepsy.Gene analysis is the most reliable method to make a definitive diagnosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Applied Clinical Pediatrics
Year:
2021
Type:
Article
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