Associated Papers
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_ClinVar
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
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.
Behnes CL et al.
Bmc Urology, 2013
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
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