Diagnostic and severity scores for Cockayne syndrome
Abstract 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, complexi...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2021-02-01
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| Seri Bilgileri: | Orphanet Journal of Rare Diseases |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s13023-021-01686-8 |
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