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Reed's Syndrome

Almeida, FT; Santos, R P; Carvalho, SD; Brito, C

Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report...

Date: 2018   |   Origin: Repositório Científico do Hospital de Braga
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