HIGHLIGHTS
- who: Melinda Erd&odblac from the Hiroshima University, Japan have published the research work: Case Report: Association between cyclic neutropenia and SRP54 deficiency, in the Journal: (JOURNAL)
- what: The authors report an 11-year-old female patient with cyclic neutropenia and recurrent heterozygous p.T117del (c.349_351del) in-frame deletion in SRP54, who presented with dolichocolon and was successfully treated with G-CSF. The authors report here the second patient with the p.T117del SRP54 mutation who developed cyclic neutropenia showing cycles of approximately 20-days interval . For the general readers, the authors provide the . . .
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