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Article

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.

Journal of the American Academy of Dermatology - 1 Mar 2005

Chuang Gary S, Martinez-Mir Amalia, Geyer Adam, Engler Danielle E, Glaser Benjamin, Cserhalmi-Friedman Peter B, Gordon Derek, Horev Liran, Lukash Barbara, Herman Eric, Cid Manuel Prieto, Brenner Sarah, Landau Marina, Sprecher Eli, Garcia Muret Maria Pilar, Christiano Angela M, Zlotogorski Abraham

Abstract excerpt

Multiple cutaneous and uterine leiomyomata syndrome (MCL) is an autosomal dominant disease characterized by the presence of concurrent benign tumors of smooth muscle origin (leiomyoma) in the skin and uterus of affected females, and in the skin of affected males. MCL can also be associated with type II papillary renal cell cancer (HLRCC). The genetic locus for MCL and HLRCC was recently mapped to chromosome...

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Identifiers

PMID: 15761418
DOI: 10.1016/j.jaad.2004.08.051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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