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Article

Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.

The Journal of investigative dermatology - 1 Nov 1998

Khan S G, Levy H L, Legerski R, Quackenbush E, Reardon J T, Emmert S, Sancar A, Li L, Schneider T D, Cleaver J E, Kraemer K H

Abstract excerpt

A 4 y old boy of Korean ancestry had xeroderma pigmentosum (XP) with sun sensitivity, multiple cutaneous neoplasms, and inability to speak. Neurologic examination revealed hyperactivity and autistic features without typical XP neurologic abnormalities. Cultured skin fibroblasts (XP22BE) showed decreased post-UV survival, reduced post-UV plasmid host cell reactivation and defective DNA repair (16% of normal...

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Source

Identifiers

PMID: 9804340
DOI: 10.1046/j.1523-1747.1998.00391.x

Genes

XPC

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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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