Article
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
Nature genetics - 1 Sept 2000
Kirschner L S, Carney J A, Pack S D, Taymans S E, Giatzakis C, Cho Y S, Cho-Chung Y S, Stratakis C A
Abstract excerpt
Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic schwannomas. CNC is inherited as an autosomal dominant trait and the genes responsible have been mapped to 2p16 and 17q22-24 (re...
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