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Article

Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.

European journal of dermatology : EJD - 1 Jan 2000

Badeloe Sadhanna, Frank Jorge

Abstract excerpt

Multiple cutaneous and uterine leiomyomatosis syndrome (MCUL; OMIM 150800) is an autosomal dominantly inherited tumor predisposition disorder, characterized by leiomyomas of the skin and uterus. When associated with kidney cancer, this syndrome is known as hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839). All disease variants result from heterozygous mutations in the fumarate hydratase (FH)...

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Identifiers

PMID: 19939761
DOI: 10.1684/ejd.2009.0749

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Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach.Semantic proximity Read ↗

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