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Letter

Nature Genetics 38, 794–800 (1 July 2006) | doi:10.1038/ng1809

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

Anelia Horvath , Sosipatros Boikos , Christoforos Giatzakis , Audrey Robinson-White , Lionel Groussin , Kurt J Griffin , Erica Stein , Elizabeth Levine , Georgia Delimpasi , Hui Pin Hsiao , Meg Keil , Sarah Heyerdahl , Ludmila Matyakhina , Rossella Lib|[egrave]| , Amato Fratticci , Lawrence S Kirschner , Kevin Cramer , Rolf C Gaillard , Xavier Bertagna , J Aidan Carney , J|[eacute]|r|[ocirc]|me Bertherat , Ioannis Bossis & Constantine A Stratakis

Phosphodiesterases (PDEs) regulate cyclic nucleotide levels. Increased cyclic AMP (cAMP) signaling has been associated with PRKAR1A or GNAS mutations and leads to adrenocortical tumors and Cushing syndrome.