Article
A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.
The British journal of dermatology - 1 May 2017
Munford V, Castro L P, Souto R, Lerner L K, Vilar J B, Quayle C, Asif H, Schuch A P, de Souza T A, Ienne S, Alves F I A, Moura L M S, Galante P A F, Camargo A A, Liboredo R, Pena S D J, Sarasin A, Chaibub S C, Menck C F M
Abstract excerpt
BACKGROUND: Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and a high frequency of skin tumours at an early age. We identified a community in the state of Goias (central Brazil), a sunny and tropical region, with a high incidence of XP (17 patients among approximately 1000 inhabitants). OBJECTIVES: To identify gene mutations in the affected community and map the...
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