Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine

O Boyarchuk, L Kostyuchenko, H Akopyan… - Frontiers in …, 2024 - frontiersin.org
Introduction Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder,
characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most …