Akshita Gupta

Familial Occurrence of Cockayne Syndrome: Clinical Insights from Northern India

Akshita Gupta · Asian Journal of Pediatric Research · 2026

Background: Cockayne Syndrome (CS) is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants in ERCC6 (CSB) or ERCC8 (CSA). Key clinical clues include cachexia, microcephaly, characteristic “bird-like” facies, neurodevelopmental regression, sensorineu...