Article
Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor.
Pituitary - 1 Dec 2012
Guaraldi Federica, Corazzini Valentina, Gallia Gary L, Grottoli Silvia, Stals Karen, Dalantaeva Nadezhda, Frohman Lawrence A, Korbonits Márta, Salvatori Roberto
Abstract excerpt
Familial isolated pituitary adenoma (FIPA), defined as the occurrence of at least two cases of pituitary adenoma in a family that does not exhibit features of syndromic diseases, such as Carney complex or Multiple Endocrine Neoplasia type 1 or 4, is a rare autosomal dominant disease with low penetrance. About 20 % of the families with FIPA harbor inactivating mutation in aryl hydrocarbon receptor-interacting...
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