Diagnostic and severity scores for Cockayne syndrome

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 s...

Source: Orphanet Journal of Rare Diseases - February 3, 2021 Category: Internal Medicine Authors: M. A. Spitz, F. Severac, C. Obringer, S. Baer, N. Le May, N. Calmels and V. Laugel Tags: Research Source Type: research