A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma

Abstract Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM_00014...

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Bibliographic Details
Main Authors: Yasuto Yagi, Naoko Abeto, Junichi Shiraishi, Chieko Miyata, Satomi Inoue, Haruka Murakami, Moeko Nakashima, Kokichi Sugano, Mineko Ushiama, Teruhiko Yoshida, Kazuki Yamazawa
Format: Article
Language:English
Published: Nature Publishing Group 2022-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00180-8

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https://doi.org/10.1038/s41439-021-00180-8

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