1. Shafagh Shishavan, Negar, Morovvati, Saeid. 2022. A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa. In Irish journal of medical science, 192, 2279-2282. doi:10.1007/s11845-022-03246-w. https://pubmed.ncbi.nlm.nih.gov/36520350/
2. Udono, Miyako, Fujii, Kaoru, Harada, Gakuro, Kuhara, Satoru, Katakura, Yoshinori. 2015. Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells. In Scientific reports, 5, 17342. doi:10.1038/srep17342. https://pubmed.ncbi.nlm.nih.gov/26611489/
3. Zhang, Ying, Sun, Mei, Li, Na, Liu, Yang, Cai, Chunquan. 2024. Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa. In Molecular biology reports, 51, 498. doi:10.1007/s11033-024-09446-0. https://pubmed.ncbi.nlm.nih.gov/38598037/
4. Fischer, Björn, Dimopoulou, Aikaterini, Egerer, Johannes, Morava, Eva, Kornak, Uwe. 2012. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. In Human genetics, 131, 1761-73. doi:10.1007/s00439-012-1197-8. https://pubmed.ncbi.nlm.nih.gov/22773132/
5. Beyens, Aude, Moreno-Artero, Ester, Bodemer, Christine, Hadj-Rabia, Smail, Callewaert, Bert. 2018. ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. In Experimental dermatology, 28, 1142-1145. doi:10.1111/exd.13723. https://pubmed.ncbi.nlm.nih.gov/29952037/
6. Zhu, Ronghe, Wang, Qiu, Ling, Ya. . [Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39, 1135-1139. doi:10.3760/cma.j.cn511374-20210928-00784. https://pubmed.ncbi.nlm.nih.gov/36184099/
7. Guillard, Mailys, Dimopoulou, Aikaterini, Fischer, Björn, Kornak, Uwe, Wevers, Ron A. 2009. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. In Biochimica et biophysica acta, 1792, 903-14. doi:10.1016/j.bbadis.2008.12.009. https://pubmed.ncbi.nlm.nih.gov/19171192/
8. Zhang, Xuan, Lu, Hongjuan, Sun, Wei. 2024. Rare gelastic seizure associated with ATP6V0A2 gene variants in a patient with ARCLII. In Epileptic disorders : international epilepsy journal with videotape, 26, 530-532. doi:10.1002/epd2.20228. https://pubmed.ncbi.nlm.nih.gov/38953559/
智鼠故事 
