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Article

A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.

The Journal of investigative dermatology - 1 Apr 2026

van den Heuvel Anita, Wondergem Annelotte P, Kim Mihyun, Breet Isa, Kim Hyun Suk, Fawcett Heather, Fassihi Hiva, Lehmann Alan R, Schärer Orlando D, Luijsterburg Martijn S

Abstract excerpt

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by defective nucleotide excision repair (NER), leading to extreme sensitivity to sunlight-induced skin pigmentation changes and increased skin cancer risk. Patients with XP present with varying severity, often influenced by specific variants in NER-associated genes. In this study, we describe 2 unrelated Cypriot patients with XP-A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41005614
DOI: 10.1016/j.jid.2025.08.047

Genes

XPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.PMID 41005614Read ↗

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