Case report and literature review of ATP6V0A2 gene mutation features of the patient with congenital cutis laxa
10.11958/20171075
- VernacularTitle:ATP6V0A2基因突变致皮肤松弛症一例及文献复习
- Author:
Wu-Juan SHI
1
;
Jian-Bo SHU
;
Xiao-Jun LIU
;
Li SONG
;
Qing-Rong MA
;
Dan WANG
Author Information
1. 天津市儿童医院新生儿科 300134
- Keywords:
cutis laxa;
chromosome aberrations;
infant;
newborn;
ATP6VOA2 gene
- From:
Tianjin Medical Journal
2018;46(2):199-202
- CountryChina
- Language:Chinese
-
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.
