Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis
BackgroundAtaxia telangiectasia (AT) is a rare autosomal recessive genetic disorder caused by variants in the ataxia-telangiectasia mutated (ATM) gene. AT is characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility, and radiosensitivity. This repo...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2026-02-01
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| Serie: | Frontiers in Pediatrics |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fped.2026.1740485/full |
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