Associated Papers
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H et al.
Brain : a Journal of Neurology, 2023
38040034 (PubMed )
Supplement: awad266_supplementary_data.pdf
XPG: a multitasking genome caretaker.
Muniesa-Vargas A et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.
Chikhaoui A et al.
Frontiers in Genetics, 2019
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features.
Ricotti R et al.
Clinical Genetics, 2018
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