Article
Biallelic MYH germline mutations as cause of Muir-Torre syndrome.
Familial cancer - 1 Jun 2010
Guillén-Ponce Carmen, Castillejo Adela, Barberá Víctor M, Pascual-Ramírez J Carlos, Andrada Encarnación, Castillejo M Isabel, Guarinós Carla, Molina-Garrido M J, Carrato Alfredo, Soto J L
Abstract excerpt
Muir-Torre syndrome is a rare, inherited disease predisposing of gastrointestinal and cutaneous tumours, such as keratoacanthomas and sebaceous gland adenomas. Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes. This report describes a man who has multiple adenomatous colon polyps, a gastric...
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