Associated Papers
A Little Known but Very Common Phenotype in Patients With Severe Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Insufficiency.
Kızılay DÖ et al.
Pediatric Blood & Cancer, 2025
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
Roques G et al.
Pediatric Blood & Cancer, 2014
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Lanciotti M et al.
Haematologica, 2010
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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