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. 2022 Oct 1;44(7):421-422.
doi: 10.1097/MPH.0000000000002540. Epub 2022 Aug 30.

MDS and MIRAGE

Affiliations

MDS and MIRAGE

David Buchbinder et al. J Pediatr Hematol Oncol. .
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Nakano TA, Lau BW, Dickerson KE, et al. Diagnosis and treatment of pediatric myelodysplastic syndromes: a survey of the North American Pediatric Aplastic Anemia Consortium. Pediatric Blood Cancer. 2020;67:e28652.
    1. Narumi S, Amano N, Ishii T, et al. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 2016;48:792–797.
    1. Chen D-H, Below JE, Shimamura A, et al. Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am J Hum Genet. 2016;98:1146–1158.
    1. Wong JC, Bryant V, Lamprecht T, et al. Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes. JCI Insight. 2018;3:e121086.
    1. Sahoo SS, Pastor VB, Goodings C, et al. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes. Nat Med. 2021;27:1806–1817.

MeSH terms

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