Associated Papers
Case Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia.
Li Y et al.
Frontiers in Immunology, 2025
Severe Congenital Neutropenia in a Newborn Caused by a Novel Mutation in the ELANE Gene-First Report From North Macedonia and a Literature Review: A Case Report.
Zdraveska N et al.
Case Reports in Pediatrics, 2025
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Two paternal mosaicism of mutation in ELANE causing severe congenital neutropenia exhibit normal neutrophil morphology and ROS production.
Liu Q et al.
Clinical Immunology (orlando, Fla.), 2019
Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.
Kim HJ et al.
Pediatric Blood & Cancer, 2015
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