Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.
Rungnapa IttiwutKunlapat SengpanichSupanun LauhasurayotinChupong IttiwutVorasuk ShotelersukDarintr SosothikulKanya SuphapeetipornPublished in: Journal of clinical pathology (2020)
All Thai patients with congenital neutropaenia in this study harboured causative mutations in the ELANE gene, suggesting it the most common associated with the disease. Two novel mutations were also identified, expanding the genotypic spectrum of ELANE.