A homozygote mutation in <i>RPA2</i> associated with bone marrow failure, immunodeficiency, and telomere biology disorder

European Journal of Human Genetics, Published online: 17 February 2026; doi:10.1038/s41431-026-02035-8

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder