Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurr...

Source: Orphanet Journal of Rare Diseases - January 26, 2024 Category: Internal Medicine Authors: Ana Beatriz S ánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castille Tags: Research Source Type: research