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References

1. Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C.Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol. 2010 Oct;163(4):866-9. doi:10.1111/j.1365-2133.2010.09929.x.
2. Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, AltunayI, Cetincelik U, Teti A, Del Fattore A, Luciani M, Sullivan SK, Yan AC, Volpi L, Larizza L. Novel C16orf57 mutations in patients with Poikiloderma withNeutropenia: bioinformatic analysis of the protein and predicted effects of allreported mutations. Orphanet J Rare Dis. 2012 Jan 23;7:7. doi:10.1186/1750-1172-7-7.
3. Farruggia P, Indaco S, Dufour C, Lanza T, Mosa C, Macaluso A, Milioto M,D'Angelo P, Lanciotti M. Poikiloderma with neutropenia: a case report and review of the literature. J Pediatr Hematol Oncol. 2014 May;36(4):297-300. doi:10.1097/MPH.0b013e31829f35e7. Review.
4. Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, Packman LC,Shlien A, Campbell P, Kirwan M, Dokal I, Warren AJ. Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood.2013 Feb 7;121(6):1028-38. doi: 10.1182/blood-2012-10-461491.
5. Koparir A, Gezdirici A, Koparir E, Ulucan H, Yilmaz M, Erdemir A, Yuksel A,Ozen M. Poikiloderma with neutropenia: genotype-ethnic origin correlation,expanding phenotype and literature review. Am J Med Genet A. 2014Oct;164A(10):2535-40. doi: 10.1002/ajmg.a.36683.
6. Mroczek S, Dziembowski A. U6 RNA biogenesis and disease association. WileyInterdiscip Rev RNA. 2013 Sep-Oct;4(5):581-92. doi: 10.1002/wrna.1181.
7. Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K,Dziembowski A. C16orf57, a gene mutated in poikiloderma with neutropenia, encodesa putative phosphodiesterase responsible for the U6 snRNA 3' end modification.Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112.
8. Shchepachev V, Azzalin CM. The Mpn1 RNA exonuclease: cellular functions andimplication in disease. FEBS Lett. 2013 Jun 27;587(13):1858-62. doi:10.1016/j.febslet.2013.05.005.
9. Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A,Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L.Targeted next-generation sequencing appoints c16orf57 as clericuzio-typepoikiloderma with neutropenia gene. Am J Hum Genet. 2010 Jan;86(1):72-6. doi:10.1016/j.ajhg.2009.11.014.Sep 10;87(3):445.
10. Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita,poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371.
11. Wang L, Clericuzio C, Larizza L. Poikiloderma with Neutropenia. 2017 Oct 26.In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK459118/