Hereditary Leiomyomatosis And Renal Cell Cancer Syndrome (Hlrcc): Genotype And Phenotype Characteristics In A Cohort Of 197 Patients.

Ana Beatriz Sanchez-Heras,Adela Castillejo,Juan de Dios García-Diaz,Mercedes Robledo,Alex Teule,Rosario Sánchez,Angel Zuñiga,Enrique Lastra, Mercedes Duran Dominguez,Gemma Llort, Carmen Yague,Teresa Ramon Y Cajal,Consol Lopez, Adria Lopez,Judith Balmana Gelpi,Luis Robles, María Fonfria Esparza,Isabel Chirivella,Luis Gomez,José Luís Soto

JOURNAL OF CLINICAL ONCOLOGY（2020）

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摘要

1580Background: HLRCC is a hereditary condition with autosomal dominant inheritance due to germline mutations in the fumarate-hydratase gene (FH). It is characterized by skin leiomyomas (SLM) in 48...

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hereditary leiomyomatosis,renal cell cancer syndrome

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