Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation
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DOI: 10.1007/s00277-017-3134-3
Abstract: Dear Editor, Severe congenital neutropenia (SCN) is characterized by prolonged severe neutropenia (absolute neutrophil count < 500/μL) commencing in early infancy, and recurrent bacterial and/or fungal infections. Several mutations in genes including ELANE and HAX1… read more here.
Keywords: novel wasp; scn; wasp mutation; gene ... See more keywords