Associated Papers
Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.
Michaeli O et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
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
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mild fumarase deficiency and a trial of low protein diet.
Kimonis VE et al.
Molecular Genetics and Metabolism, 2012
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G et al.
Journal of Inherited Metabolic Disease, 2010
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