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Diagnostic and severity scores for Cockayne syndrome
BACKGROUND: Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from severe prenatal onset to mild adult-onset subtypes. The rarity, complexity and v...
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| Pubblicato in: | Orphanet J Rare Dis |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7860636/ https://ncbi.nlm.nih.gov/pubmed/33536051 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01686-8 |
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