Genetic Mutation Essays

Abstract: Introduction An uncommon autosomal recessive illness called ataxia-telangiectasia (AT) is characterized by immunodeficiency, oculocutaneous telangiectasia, progressive cerebellar ataxia, and an increased risk of malignancy. This work thoroughly examines a patient cohort with AT, emphasizing management techniques, insights from global case series, and diagnostic standards. The objective is to provide significant perspectives for healthcare professionals, ... Read More