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Article

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Orphanet journal of rare diseases - 22 Mar 2016

Calmels Nadège, Greff Géraldine, Obringer Cathy, Kempf Nadine, Gasnier Claire, Tarabeux Julien, Miguet Marguerite, Baujat Geneviève, Bessis Didier, Bretones Patricia, Cavau Anne, Digeon Béatrice, Doco-Fenzy Martine, Doray Bérénice, Feillet François, Gardeazabal Jesus, Gener Blanca, Julia Sophie, Llano-Rivas Isabel, Mazur Artur, Michot Caroline, Renaldo-Robin Florence, Rossi Massimiliano, Sabouraud Pascal, Keren Boris, Depienne Christel, Muller Jean, Mandel Jean-Louis, Laugel Vincent

Abstract excerpt

BACKGROUND: Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS). In view of the clinical overlap between NER-related disorders, as well as the existence of multiple phenotypes and the numerous genes involved, we...

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Source

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Identifiers

PMID: 27004399
DOI: 10.1186/s13023-016-0408-0
PMCID: PMC4804614

Genes

ERCC2
ERCC3
ERCC5
ERCC6
ERCC8
POLH

Provenance

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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