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Article

Case of hereditary leiomyomatosis and renal cell cancer showing multiple cutaneous leiomyomas harboring a recurrent nonsense mutation in the fumarate hydratase gene.

The Journal of dermatology - 1 Jan 2022

Mai Shoko, Yanagi Teruki, Shimano Mayuna, Nishie Wataru, Arita Ken, Ujiie Hideyuki

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Share to Carcinoma, Renal Cell
Share to Codon, Nonsense
Share to Fumarate Hydratase
Share to Kidney Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leiomyomatosis

Share to Neoplasm Recurrence, Local

Share to Neoplastic Syndromes, Hereditary

Share to Uterine Neoplasms

Source

Identifiers

PMID: 34755393
DOI: 10.1111/1346-8138.16223

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Case of hereditary leiomyomatosis and renal cell cancer showing multiple cutaneous leiomyomas harboring a recurrent nonsense mutation in the fumarate hydratase gene.PMID 34755393Read ↗

Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.Semantic proximity Read ↗

Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene.Semantic proximity Read ↗

Missense Mutations in Fumarate Hydratase in Multiple Cutaneous and Uterine Leiomyomatosis and Renal Cell CancerSemantic proximity Read ↗

A case report of hereditary leiomyomatosis and renal cell cancer.Semantic proximity Read ↗

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.Semantic proximity Read ↗

Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.Semantic proximity Read ↗

Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine LeiomyomataSemantic proximity Read ↗

Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient.Semantic proximity Read ↗

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.Semantic proximity Read ↗

A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).Semantic proximity Read ↗

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.Semantic proximity Read ↗

Hereditary Leiomyomatosis and Renal Cell Cancer.Semantic proximity Read ↗

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