Associated Papers
Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.
Orrego JJ et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Pheochromocytoma and Paraganglioma.
Fuchs TL et al.
The American Journal of Surgical Pathology, 2023
Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma.
Ma X et al.
Annals of the New York Academy of Sciences, 2022
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
Germline FH mutations presenting with pheochromocytoma.
Clark GR et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Castro-Vega LJ et al.
Human Molecular Genetics, 2014
Paragangliomas: update on differential diagnostic considerations, composite tumors, and recent genetic developments.
Papathomas TG et al.
Seminars in Diagnostic Pathology, 2013
SDH mutations establish a hypermethylator phenotype in paraganglioma.
Letouzé E et al.
Cancer Cell, 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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