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ORIGINAL RESEARCH

Two Novel and a Recurrent ATP2C1 Mutations in Chinese Population with Hailey–Hailey Disease

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Pages 1545-1548 | Received 19 Apr 2023, Accepted 10 Jun 2023, Published online: 15 Jun 2023

References

  • Burge SM. Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol. 1992;126(3):275–282. doi:10.1111/j.1365-2133.1992.tb00658.x
  • Ben Lagha I, Ashack K, Khachemoune A. Hailey-Hailey disease: an update review with a focus on treatment data. Am J Clin Dermatol. 2020;21(1):49–68. doi:10.1007/s40257-019-00477-z
  • Hu Z, Bonifas JM, Beech J, et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 2000;24(1):61–65. doi:10.1038/71701
  • Xiao Z, Liu ZG, Ou Yang XL, Yu SM, Zeng JR, Li CM. Two novel variants and one previously reported variant in the ATP2C1 gene in Chinese Hailey-Hailey disease patients. Mol Syndromol. 2021;12(3):148–153. doi:10.1159/000514282
  • Bhangale TR, Stephens M, Nickerson DA. Automating resequencing-based detection of insertion-deletion polymorphisms. Nat Genet. 2006;38(12):1457–1462. doi:10.1038/ng1925
  • Wang Z, Li L, Sun L, et al. Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population. J Dermatol. 2019;46(11):1024–1026. doi:10.1111/1346-8138.15055