Progeroid Cockayne Syndrome

• मुख्य लेखकों: Anastasiya L. Kungurtseva (लेखक), Alisa V. Vitebskaya (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: "Paediatrician" Publishers LLC, 2024-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...