Diagnostic and severity scores for Cockayne syndrome

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, complexity and v...

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Detalles Bibliográficos
Autores principales: Spitz, M. A., Severac, F., Obringer, C., Baer, S., Le May, N., Calmels, N., Laugel, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7860636/
https://www.ncbi.nlm.nih.gov/pubmed/33536051
http://dx.doi.org/10.1186/s13023-021-01686-8

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