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Article

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Brain : a journal of neurology - 1 Dec 2023

Garcia-Moreno Hector, Langbehn Douglas R, Abiona Adesoji, Garrood Isabel, Fleszar Zofia, Manes Marta Antonia, Morley Ana M Susana, Craythorne Emma, Mohammed Shehla, Henshaw Tanya, Turner Sally, Naik Harsha, Bodi Istvan, Sarkany Robert P E, Fassihi Hiva, Lehmann Alan R, Giunti Paola

Abstract excerpt

Xeroderma pigmentosum (XP) results from biallelic mutations in any of eight genes involved in DNA repair systems, thus defining eight different genotypes (XPA, XPB, XPC, XPD, XPE, XPF, XPG and XP variant or XPV). In addition to cutaneous and ophthalmological features, some patients present with XP neurological disease. It is unknown whether the different neurological signs and their progression differ among...

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Identifiers

PMID: 38040034
DOI: 10.1093/brain/awad266
PMCID: PMC10690019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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