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Article

Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.

The Journal of investigative dermatology - 1 Sept 2007

Campione Elena, Terrinoni Alessandro, Orlandi Augusto, Codispoti Andrea, Melino Gerry, Bianchi Luca, Mazzotta Annamaria, Garaci Francesco Giuseppe, Ludovici Andrea, Chimenti Sergio

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Identifiers

PMID: 17476294
DOI: 10.1038/sj.jid.5700851

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Related research

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Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.PMID 17476294Read ↗

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

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

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

Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family.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 ↗

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

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

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

Familial Leiomyomatosis: A Review and Discussion of PathogenesisSemantic proximity Read ↗

[From gene to disease; cutaneous leiomyomatosis].Semantic proximity Read ↗

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

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