NeW progress in diagnosis and treatment of CHARGE syndrome / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 1116-1120, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-752364
ABSTRACT
CHARGE syndrome is a rare autosomal dominant genetic disease,which involves the structure and function of multiple organs. The clinical manifestations are complex and diverse,it can be hereditary,but most cases was sporadic. While,the representation of disease is too much overlap with other diseases,it can be difficult to make a diag-nosis only by clinical data. With the discovery of the pathogenic gene-CHD7,it can be further enhanced the knowledge and diagnosis of disease. Prompt diagnosis and treatment is not only beneficial to reduce mortality,but also can help to the prognosis of the patients. Through reviewing the literature,the progress of diagnosis and treatment of CHARGE syn-drome were summarized in order to diagnose and treat the disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Applied Clinical Pediatrics
Ano de publicação:
2019
Tipo de documento:
Artigo
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