Congenital disorder of glycosylation caused by de novo variant of SLC35A2 gene: a case report / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 60-64, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-933757
ABSTRACT
Congenital disorder of glycosylation (CDG) is a group of genetic metabolic diseases involving multiple organs. A case of CDG caused by SLC35A2 gene mutation was diagnosed. The clinical characteristics included spasms, developmental retardation and multiple malformations. Video-electroencephalogram showed dysrhythmia. A de novo heterozygous missense mutation of SLC35A2 gene was detected by whole exome sequencing c.844G>A (p.Gly282Arg). It was predicted to be likely pathogenic according to American College of Medical Genetics and Genomics guidelines which had not been reported in China.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Guia de Prática Clínica
/
Estudo prognóstico
Idioma:
Chinês
Revista:
Chinese Journal of Neurology
Ano de publicação:
2022
Tipo de documento:
Artigo
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