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Case Reports
. 2024 Jan 17;44(2):43.
doi: 10.1007/s10875-023-01650-0.

Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease

Vaishnavi V Iyengar  1 , Akshaya Chougule  1 , Vijaya Gowri  1 , Prasad Taur  1 , Minnie Bodhanwala  1 , Mukesh M Desai  2
Affiliations
Case Reports

Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease

Vaishnavi V Iyengar et al. J Clin Immunol. .
No abstract available

Keywords: SAMD9L; loss of heterozygosity; monosomy 7; pancytopenia; pediatric MDS.

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Comment on

  • Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
    Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Catala A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S; European Working Group of MDS in Children (EWOG-MDS); Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW. Sahoo SS, et al. Nat Med. 2021 Oct;27(10):1806-1817. doi: 10.1038/s41591-021-01511-6. Epub 2021 Oct 7. Nat Med. 2021. PMID: 34621053 Free PMC article.

References

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