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Article

Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome.

Cancer genetics - 1 Jul 2020

Rentas Stefan, Pillai Vinodh, Wertheim Gerald B, Akgumus Gozde T, Nichols Kim E, Deardorff Matthew A, Conlin Laura K, Li Marilyn M, Olson Timothy S, Luo Minjie

Abstract excerpt

Gain of function variants in SAMD9 cause MIRAGE syndrome, a rare Mendelian disorder that results in myeloid dysplastic syndrome (MDS), poor immune response, restricted growth, adrenal insufficiency, ambiguous genitalia, feeding difficulties and most often significantly reduced lifespan. In this study, we describe histomorphologic and genetic changes occurring in serial bone marrow measurements in a patient with...

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Identifiers

PMID: 32619790
DOI: 10.1016/j.cancergen.2020.06.002

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