Diagnostic and severity scores for Cockayne syndrome

Diagnostic and severity scores for Cockayne syndrome

Abstract Background 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 severe prenatal onset to mild adult-onset subtypes. The rarity, complexi...

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Bibliographic Details
Main Authors: M. A. Spitz, F. Severac, C. Obringer, S. Baer, N. Le May, N. Calmels, V. Laugel
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cockayne syndrome
Score
Diagnosis
Clinical severity
Online Access:https://doi.org/10.1186/s13023-021-01686-8

Internet

https://doi.org/10.1186/s13023-021-01686-8

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