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Article

Characterisation of a novel missense mutation in the ERCC5 gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap.

BMJ case reports - 17 Oct 2023

Stehnach William Christopher, Cantor Aaron, Bongiorno Michelle

Abstract excerpt

Xeroderma pigmentosum-Cockayne syndrome complex (XP-CS) is exceedingly rare, with 43 cases described over the past five decades; 21 of these cases exhibited mutations in the ERCC5 endonuclease associated with xeroderma pigmentosum, group G.We report the first known phenotypic characterisation of the homozygous chromosome 13 ERCC5, Exon 11, c.2413G>A (p.Gly805Arg) missense mutation in a female toddler presenting...

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Identifiers

PMID: 37848274
DOI: 10.1136/bcr-2022-253358
PMCID: PMC10583051

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