Neonatal onset Cockayne syndrome: A rare photogenodermatosis

• मुख्य लेखकों: A L Senthil Kumar (लेखक), C Aruna (लेखक), K Swapna (लेखक), D Ramamurthy (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Cockayne syndrome (CS) is a rare genodermatosis with autosomal recessive inheritance and around 180 cases have been reported worldwide. It results from mutation in genes ERCC8 and ERCC6 coding for proteins involved in transcription-coupled repair. It is characterized by profound growth retardation,...