Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-p...

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Bibliographic Details
Main Authors: A. Beatriz Sánchez-Heras, Adela Castillejo, Juan D. García-Díaz, Mercedes Robledo, Alexandre Teulé, Rosario Sánchez, Ángel Zúñiga, Enrique Lastra, Mercedes Durán, Gemma Llort, Carmen Yagüe, Teresa Ramon y Cajal, Consol López San Martin, Adrià López-Fernández, Judith Balmaña, Luis Robles, José M. Mesa-Latorre, Isabel Chirivella, María Fonfria, Raquel Perea Ibañez, M. Isabel Castillejo, Inés Escandell, Luis Gomez, Pere Berbel, Jose Luis Soto
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Cancers
Subjects:
leiomyomas
hereditary leiomyomatosis
<i>FH</i> gene
missense pathogenic variants, renal cell cancer
Online Access:https://www.mdpi.com/2072-6694/12/11/3277

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https://www.mdpi.com/2072-6694/12/11/3277

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