Case report of clinical features of 4H syndrome and analysis of POLR3A gene / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
; (24): 1582-1584, 2021.
Article
Dans Zh
| WPRIM
| ID: wpr-908016
Responsable en Bibliothèque :
WPRO
ABSTRACT
Clinical data of a case of 4H syndrome admitted to the Department of Neurology, Anhui Children′s Hospital in January 2019 were retrospectively analyzed.The male patient with 2 years and 7 months old had clinical manifestations of motor and mental retardation, unstable gait, and abnormal tooth development.Head magnetic resonance imaging revealed abnormal brain white matter development.Family-wide exon detection revealed compound heterozygous mutations of the POLR3 A gene, c.3858C>A (exon29) and c. 3226G>A (exon24), which were newly detected pathogenic mutations.It is suggested that 4H syndrome should be considered in children with early developmental retardation, abnormal tooth development, and abnormal white matter.
Texte intégral:
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Indice:
WPRIM
langue:
Zh
Texte intégral:
Chinese Journal of Applied Clinical Pediatrics
Année:
2021
Type:
Article