Associated Papers
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.
Ricciardiello R et al.
Scientific Reports, 2024
Foveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report.
Karatas E et al.
Beyoglu Eye Journal, 2024
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.
Nikolaev S et al.
Orphanet Journal of Rare Diseases, 2022
Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors.
Monte F et al.
Ge Portuguese Journal of Gastroenterology, 2022
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
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