Article
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
Proceedings of the National Academy of Sciences of the United States of America - 6 Mar 2007
Georgitsi Marianthi, Raitila Anniina, Karhu Auli, Tuppurainen Karoliina, Mäkinen Markus J, Vierimaa Outi, Paschke Ralf, Saeger Wolfgang, van der Luijt Rob B, Sane Timo, Robledo Mercedes, De Menis Ernesto, Weil Robert J, Wasik Anna, Zielinski Grzegorz, Lucewicz Olga, Lubinski Jan, Launonen Virpi, Vahteristo Pia, Aaltonen Lauri A
Abstract excerpt
Pituitary adenomas are common neoplasms of the anterior pituitary gland. Germ-line mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene cause pituitary adenoma predisposition (PAP), a recent discovery based on genetic studies in Northern Finland. In this population, a founder mutation explained a significant proportion of all acromegaly cases. Typically, PAP patients were of a young age at...
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