Associated Papers
Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.
Becker M et al.
American Journal of Medical Genetics. Part A, 2026
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
41383606 (PubMed )
Supplement: Table1.xlsx › Arkusz1
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.
Horwitz MS et al.
Hematology/oncology Clinics of North America, 2013
Severe congenital neutropenia and the unfolded protein response.
Xia J et al.
Current Opinion in Hematology, 2008
Neutrophil elastase in cyclic and severe congenital neutropenia.
Horwitz MS et al.
Blood, 2007
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanné-Chantelot C et al.
Blood, 2004
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