Associated Papers
Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer.
Nagashima A et al.
Diagnostics (basel, Switzerland), 2024
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_LOVD
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.
Muller M et al.
Clinical Genetics, 2017
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