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Article

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Clinical genetics - 1 Jun 2021

Agolini Emanuele, Botta Elena, Lodi Mariachiara, Digilio Maria Cristina, Rinelli Martina, Bellacchio Emanuele, Alesi Viola, Nardo Tiziana, Zambruno Giovanna, Orioli Donata, Alessi Iside, Boccuto Luigi, Rossi Sabrina, Carai Andrea, Colafati Giovanna Stefania, Cacchione Antonella, Dallapiccola Bruno, Novelli Antonio, Mastronuzzi Angela

Abstract excerpt

Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome. We report a pediatric patient harboring two compound heterozygous variants in ERCC2 gene, c.361-1G>A and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 33733458
DOI: 10.1111/cge.13957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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