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Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected

Publikace na 1. lékařská fakulta |
2022

Tento text není v aktuálním jazyce dostupný. Zobrazuje se verze "en".Abstrakt

Overlap between disorders manifesting with different skin conditions and movement disorders is gaining increased recognition in recent years.1 Recently, Cordts et al.2 analyzed prevalence of bilallelic variants in genes of the nucleotide excision repair (NER) pathway in patients presenting primarily with neurological symptoms.