Article
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
The Journal of clinical endocrinology and metabolism - 1 May 2006
Groussin Lionel, Horvath Anelia, Jullian Eric, Boikos Sosipatros, Rene-Corail Fernande, Lefebvre Herve, Cephise-Velayoudom Fritz-Line, Vantyghem Marie-Christine, Chanson Philippe, Conte-Devolx Bernard, Lucas Miguel, Gentil Alfonso, Malchoff Carl D, Tissier Frédérique, Carney J Aidan, Bertagna Xavier, Stratakis Constantine A, Bertherat Jérôme
Abstract excerpt
CONTEXT: Primary pigmented nodular adrenocortical disease (PPNAD), a rare cause of corticotropin-independent Cushing syndrome, can be part of Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac myxomas, and endocrine tumors or be isolated (i). Germline PRKAR1A-inactivating mutations have been observed in both CNC and iPPNAD, but with no...
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