Article
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
European journal of human genetics : EJHG - 1 Oct 2008
Horvath Anelia, Giatzakis Christoforos, Tsang Kitman, Greene Elizabeth, Osorio Paulo, Boikos Sosipatros, Libè Rossella, Patronas Yianna, Robinson-White Audrey, Remmers Elaine, Bertherat Jerôme, Nesterova Maria, Stratakis Constantine A
Abstract excerpt
Bilateral adrenocortical hyperplasia (BAH) is the second most common cause of corticotropin-independent Cushing syndrome (CS). Genetic forms of BAH have been associated with complex syndromes such as Carney Complex and McCune-Albright syndrome or may present as isolated micronodular adrenocortical disease (iMAD) usually in children and young adults with CS. A genome-wide association study identified inactivating...
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