Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer predisposition syndrome caused by autosomal dominant heterozygous pathogenic variants in the fumarate hydratase (FH) gene. FH pathogenic variant carriers are at an increased risk for cutaneous leiomyomas, renal cell cance...

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Detalles Bibliográficos
Autores principales: Franke, Keith, Vagher, Jennie, Boyle, Julie, Hall, April, Smith‐Simmer, Kelcy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886725/
https://www.ncbi.nlm.nih.gov/pubmed/35251648
http://dx.doi.org/10.1002/ccr3.5513

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