Progeroid Cockayne Syndrome
Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG (ERCC5) genes. Its prevalence is 1 case per 2.5...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
"Paediatrician" Publishers LLC,
2024-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |