Article

Identifying Two Novel Mutations and MDS/AML Outcome of Severe Congenital Neutropenia/Cyclic Neutropenia

2023-05-25

Abstract excerpt

Severe congenital neutropenia (SCN)/cyclic neutropenia (CyN), a rare disease, is caused by ELANE or ELA2 gene mutations. The study reported that 4 children (2 SCN and 2 CyN) presented with recurrent infections. The two novel mutations, p. Ala79del and p.Val197GlufsTer18, in exons 3 and 4, were identified, causing SCN and CyN, respectively. One patient with the longest follow-up time of 12.9 years developed MDS/AML...

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Literature Corpus work: cc4aff13-3a24-5b99-a9a8-9642a9091afb
DOI: 10.21203/rs.3.rs-2862818/v1

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