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Article

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7

7 Aug 2020

Abstract excerpt

Monosomy 7 (-7) occurs in various types of paediatric myeloid disorders and has a poor prognosis. Recent studies have demonstrated that patients with germline gain-of-function SAMD9/9L variants and loss-of-function GATA2 variants are prone to developing myelodysplastic syndrome (MDS) associated with -7. However, the prevalence of the genetic variants among paediatric haematologic disorders with -7 is unknown. The...

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PMID: 32770553
DOI: 10.1111/bjh.17006

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