Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.

Karina Miranda Santiago Ligia Pereira Castro João Pedreira Duprat Neto A F de NóbregaC A L PintoPatricia Ashton-Prolla Filippo Pinto E Vairo Paula Frassinetti Vasconcelos de Medeiros Erlane Marques Ribeiro B F R Ribeiro Fabio FrancesconiM J R DoriquiCarlos Heli Bezerra Leite R M Rocha Livia Maria Silva Moura Veridiana Munford Pedro Alexandre Favoretto Galante Carlos Frederico Martins Menck Sílvia Regina Rogatto Maria Isabel Achatz

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2020)

We reported a high frequency of XPC variants in 32 XP Brazilian patients. Nine new variants in XP-related genes, unexpected non-skin cancer lesions and an anticipation of the clinical manifestation in POLH/XPV cases were also described.

Keyphrases

high frequency
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
skin cancer
transcranial magnetic stimulation
gene expression
genome wide