Article
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Oct 2020
Santiago K M, Castro L P, Neto J P D, de Nóbrega A F, Pinto C A L, Ashton-Prolla P, Pinto E Vairo F, de Medeiros P F V, Ribeiro E M, Ribeiro B F R, do Valle F F, Doriqui M J R, Leite C H B, Rocha R M, Moura L M S, Munford V, Galante P A F, Menck C F M, Rogatto S R, Achatz M I
Abstract excerpt
BACKGROUND: Xeroderma pigmentosum (XP) patients present a high risk of developing skin cancer and other complications at an early age. This disease is characterized by mutations in the genes related to the DNA repair system. OBJECTIVES: To describe the clinical and molecular findings in a cohort of 32 Brazilian individuals who received a clinical diagnosis of XP. METHODS: Twenty-seven families were screened for...
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