DOI: 10.11958/20171075
Case report and literature review of ATP6V0A2 gene mutation features of the patient with congenital cutis laxa
SHI Wu-juan
SHU Jian-bo
LIU Xiao-jun
SONG Li
MA Qing-rong
WANG Dan
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.
Keywords：cutis laxachromosome aberrationsinfantnewbornATP6VOA2 gene
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 199-202 )