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Article

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

Experimental dermatology - 1 Jan 2009

Emmert Steffen, Ueda Takahiro, Zumsteg Urs, Weber Peter, Khan Sikandar G, Oh Kyu-Seon, Boyle Jennifer, Laspe Petra, Zachmann Karolin, Boeckmann Lars, Kuschal Christiane, Bircher Andreas, Kraemer Kenneth H

Abstract excerpt

We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age and a strict UV protection scheme was implemented. Besides recurrent conjunctivitis and bilateral pterygium, only mild freckling was present on his...

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Identifiers

PMID: 18637129
DOI: 10.1111/j.1600-0625.2008.00763.x
PMCID: PMC2605190

Genes

ERCC2

Variants

Provenance

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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