[1] |
Wang L, Clericuzio C, Larizza L, et al. Poikiloderma with neutropenia. GeneReviews®[Internet][M/OL]. Seattle (WA): University of Washington,1993⁃2019. https://www.ncbi.nlm.nih.gov/books/NBK459118/.
|
[2] |
Arnold AW, Itin PH, Pigors M, et al. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria[J]. Br J Dermatol, 2010,163(4):866⁃869. doi: 10.1111/j.1365⁃2133.2010.09929.x.
|
[3] |
Colombo EA, Bazan JF, Negri G, et al. Novel C16orf57 mutations in patients with poikiloderma with neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations[J]. Orphanet J Rare Dis, 2012,7:7. doi: 10.1186/1750⁃1172⁃7⁃7.
|
[4] |
Walne AJ, Collopy L, Cardoso S, et al. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis[J]. Haematologica, 2016,101(10):1180⁃1189. doi: 10.3324/haematol.2016.147769.
|
[5] |
Walne AJ, Vulliamy T, Beswick R, et al. Mutations in C16orf57 and normal⁃length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund⁃Thomson syndrome[J]. Hum Mol Genet, 2010,19(22):4453⁃4461. doi: 10.1093/hmg/ddq371.
|
[6] |
Rodgers W, Ancliff P, Ponting CP, et al. Squamous cell carcinoma in a child with Clericuzio⁃type poikiloderma with neutropenia[J]. Br J Dermatol, 2013,168(3):665⁃667. doi: 10.1111/bjd.12016.
|
[7] |
Hertel DP, Mohammad TF, Shwayder TA. Poikiloderma with neutropenia and associated squamous cell carcinoma: a case report[J]. Pediatr Dermatol, 2018,35(6):e366⁃e367. doi: 10.1111/pde.13645.
|
[8] |
Van Hove JL, Jaeken J, Proesmans M, et al. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund⁃Thomson syndrome[J]. Am J Med Genet A, 2005,132A(2):152⁃158. doi: 10.1002/ajmg.a.30430.
|
[9] |
Koparir A, Gezdirici A, Koparir E, et al. Poikiloderma with neutropenia: genotype⁃ethnic origin correlation, expanding phenotype and literature review[J]. Am J Med Genet A, 2014,164A(10):2535⁃2540. doi: 10.1002/ajmg.a.36683.
|
[10] |
Patiroglu T, Akar HH. Clericuzio⁃type poikiloderma with neutropenia syndrome in a Turkish family: a three report of siblings with mutation in the C16orf57 gene[J]. Iran J Allergy Asthma Immunol, 2015,14(3):331⁃337.
|
[11] |
Aglaguel A, Abdelghaffar H, Ailal F, et al. Poikiloderma with neutropenia in Morocco: a report of four dases[J]. J Clin Immunol, 2017,37(4):357⁃362. doi: 10.1007/s10875⁃017⁃0385⁃7.
|
[12] |
Zhang Z, Zhang J, Chen F, et al. Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation[J]. J Dermatol, 2019,46(11):1014⁃1018. doi: 10.1111/1346⁃8138.15045.
|