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Clinics, Genetics and Treatment in a Russian Cohort of Young Patients with Xeroderma Pigmentosum: A Single Center Experience

2026-08-27

Abstract excerpt

Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare autosomal recessive DNA repair disorders. XP is characterized by extreme sensitivity to UV-radiation and a very high risk of skin cancer. To date, little is known about the clinical characteristics and genetic basis of these diseases in Russia. Here, we present a detailed study of 14 patients (aged 5–30 years) from 11 unrelated families of diverse ethn...

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Literature Corpus work
c44c4986-20ef-58c8-817a-ad9e40d750a4
DOI
10.20944/preprints202608.1963.v1
Open publication

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Clinics, Genetics and Treatment in a Russian Cohort of Young Patients with Xeroderma Pigmentosum: A Single Center ExperienceDOI 10.20944/preprints202608.1963.v1
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