[1] |
Huang X, Chen ZM, Yang Y. Homozygous nonsense mutation in SDR9C7 in a Chinese patient with autosomal recessive congenital ichthyosis[J]. Int J Dermatol Venerol, 2023,6(1):52⁃54. doi: 10. 1097/JD9.0000000000000236.
|
[2] |
Terrinoni A, Didona B, Caporali S, et al. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin[J/OL]. PLoS One, 2018,13(4):e0195792. doi: 10.1371/journal.pone.0195792.
|
[3] |
Yang Z, Xu Z, Zhang N, et al. A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth⁃Macklin[J]. Clin Exp Dermatol, 2020,45(6):719⁃721. doi: 10.1111/ced.14193.
|
[4] |
Kubo Y, Urano Y, Matsuda R, et al. Ichthyosis hystrix, Curth⁃Macklin type: a new sporadic case with a novel mutation of keratin 1[J]. Arch Dermatol, 2011,147(8):999⁃1001. doi: 10. 1001/archdermatol.2011.217.
|
[5] |
Sprecher E, Ishida⁃Yamamoto A, Becker OM, et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix[J]. J Invest Dermatol, 2001,116(4):511⁃519. doi: 10.1046/j.1523⁃1747.2001.01292.x.
|
[6] |
Richardson ES, Lee JB, Hyde PH, et al. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African⁃American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth⁃Macklin type[J]. J Invest Dermatol, 2006,126(1):79⁃84. doi: 10.1038/sj.jid.5700025.
|
[7] |
Fonseca DJ, Rojas RF, Vergara JI, et al. A severe familial phenotype of ichthyosis Curth⁃Macklin caused by a novel mutation in the KRT1 gene[J]. Br J Dermatol, 2013,168(2):456⁃458. doi: 10.1111/j.1365⁃2133.2012.11181.x.
|