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...
Autors principals: | , , , , , |
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Format: | Article |
Idioma: | English |
Publicat: |
BMC
2023-09-01
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Col·lecció: | Italian Journal of Pediatrics |
Matèries: | |
Accés en línia: | https://doi.org/10.1186/s13052-023-01509-5 |