Case report and literature review of ATP6V0A2 gene mutation features of the patient with congenital cutis laxa / 天津医药
Tianjin Medical Journal
;
(12): 199-202, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-698006
ABSTRACT
The incidence of autosomal recessive cutis laxa induced by ATP6VOA2 gene mutation is extremely low in neonates and rarely reported in China.There was one case of ATP6VOA2 gene mutations caused autosomal recessive cutis laxa diagnosed in Tianjin Children's Hospital.This article reviewed the diagnosis and treatment of the patient and reviewed the relevant literature,in order to improve the understanding of the disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Tianjin Medical Journal
Ano de publicação:
2018
Tipo de documento:
Artigo
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