Tianjin Med J ›› 2018, Vol. 46 ›› Issue (2): 199-202.doi: 10.11958/20171075
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SHI Wu-juan, SHU Jian-bo, LIU Xiao-jun, SONG Li, MA Qing-rong, WANG Dan△
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SHI Wu-juan, SHU Jian-bo, LIU Xiao-jun, SONG Li, MA Qing-rong, WANG Dan△. Case report and literature review of ATP6V0A2 gene mutation features of the patient with congenital cutis laxa[J]. Tianjin Med J, 2018, 46(2): 199-202.
Abstract: 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.
Key words: Key words： cutis laxa, chromosome aberrations, infant, newborn, ATP6VOA2 gene
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URL: https://www.tjyybjb.ac.cn/EN/10.11958/20171075
https://www.tjyybjb.ac.cn/EN/Y2018/V46/I2/199
