A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia

Abstract Background Ataxia-telangiectasia (A-T) is a rare autosomal recessive DNA repair disorder, characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, radiation sensitivity, premature aging and predisposition to cancer. Although...

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Main Authors: Laura De Nardi, Marco Francesco Natale, Virginia Messia, Paolo Tomà, Fabrizio De Benedetti, Antonella Insalaco
格式: 文件
语言:English
出版: BMC 2023-09-01
丛编:Italian Journal of Pediatrics
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在线阅读:https://doi.org/10.1186/s13052-023-01509-5