Associated Papers
Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
Pekpak Sahinoglu E et al.
Journal of Pediatric Hematology/oncology, 2024
Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review.
Lyu B et al.
Frontiers in Pediatrics, 2020
Cyclic manner of neutropenia in a patient with HAX-1 mutation.
Cipe FE et al.
Pediatric Hematology and Oncology, 2018
Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
Cekic S et al.
Journal of Clinical Immunology, 2017
Kostmann disease with developmental delay in three patients.
Aytekin C et al.
European Journal of Pediatrics, 2010
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.
Faiyaz-Ul-Haque M et al.
European Journal of Pediatrics, 2010
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Lanciotti M et al.
Haematologica, 2010
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
Smith BN et al.
British Journal of Haematology, 2009
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.
Zeidler C et al.
British Journal of Haematology, 2009
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Germeshausen M et al.
Blood, 2008
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