Associated Papers
Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
Pekpak Sahinoglu E et al.
Journal of Pediatric Hematology/oncology, 2024
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari HP et al.
Indian Journal of Pediatrics, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
Roques G et al.
Pediatric Blood & Cancer, 2014
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
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
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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