Article
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.
JCI insight - 26 Jul 2018
Wong Jasmine C, Bryant Victoria, Lamprecht Tamara, Ma Jing, Walsh Michael, Schwartz Jason, Del Pilar Alzamora Maria, Mullighan Charles G, Loh Mignon L, Ribeiro Raul, Downing James R, Carroll William L, Davis Jeffrey, Gold Stuart, Rogers Paul C, Israels Sara, Yanofsky Rochelle, Shannon Kevin, Klco Jeffery M
Abstract excerpt
Germline SAMD9 and SAMD9L mutations cause a spectrum of multisystem disorders that carry a markedly increased risk of developing myeloid malignancies with somatic monosomy 7. Here, we describe 16 siblings, the majority of which were phenotypically normal, from 5 families diagnosed with myelodysplasia and leukemia syndrome with monosomy 7 (MLSM7; OMIM 252270) who primarily had onset of hematologic abnormalities...
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