REFERENCES
1. Cesaro S, Pegoraro A, Sainati L, et al. A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome. J Pediatr 2020:219:196-201.
2. Donadieu J, Fenneteau O, Beaupain B, et al. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica 2012:97:1312-1319.
3. Warren AJ. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. Adv Biol Regul 2017.
4. Myers KC, Furutani E, Weller E, et al. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol 2020:7:e238-e246.
5. Xia J, Miller CA, Baty J, et al. Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood 2018:131:408-416.
6. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica 2018:103:30-39.
7. Singh SA, Vlachos A, Morgenstern NJ, et al. Breast cancer in a case of Shwachman Diamond syndrome. Pediatr Blood Cancer 2012:59:945-946.
8. Sack JE, Kuchnir L, Demierre MF. Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome. Pediatr Dermatol 2011:28:568-569.
9. Dhanraj S, Manji A, Pinto D, et al. Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. Pediatr Blood Cancer 2013:60:754-760.
10. Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci 2011:1242:40-55.
11. Masserot C, Peffault de LR, Rocha V, et al. Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer 2008:113:3315-3322.
12. Donadieu J, Delhommeau F. TP53 mutations: the dawn of Shwachman clones. Blood 2018:131:376-377.
13. Goh AM, Coffill CR, Lane DP. The role of mutant p53 in human cancer. J Pathol 2011:223:116-126.
14. Golomb L, Volarevic S, Oren M. p53 and ribosome biogenesis stress: the essentials. FEBS Lett 2014:588:2571-2579.
15. Green JA, Von EM, Abrahmsen LB. Restoration of conformation of mutant p53. Ann Oncol 2018:29:1325-1328.