Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds.

doi:10.1530/ERC-11-0362

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Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds.

Endocrine-related cancer - 1 Jun 2012

Tichomirowa Maria A, Lee Misu, Barlier Anne, Daly Adrian F, Marinoni Ilaria, Jaffrain-Rea Marie-Lise, Naves Luciana A, Rodien Patrice, Rohmer Vincent, Faucz Fabio Rueda, Caron Philippe, Estour Bruno, Lecomte Pierre, Borson-Chazot Françoise, Penfornis Alfred, Yaneva Maria, Guitelman Mirtha, Castermans Emily, Verhaege Catherine, Wémeau Jean-Louis, Tabarin Antoine, Fajardo Montañana Carmen, Delemer Brigitte, Kerlan Veronique, Sadoul Jean-Louis, Cortet Rudelli Christine, Archambeaud Françoise, Zacharieva Sabine, Theodoropoulou Marily, Brue Thierry, Enjalbert Alain, Bours Vincent, Pellegata Natalia S, Beckers Albert

Abstract excerpt

Familial isolated pituitary adenoma (FIPA) occurs in families and is unrelated to multiple endocrine neoplasia type 1 and Carney complex. Mutations in AIP account only for 15-25% of FIPA families. CDKN1B mutations cause MEN4 in which affected patients can suffer from pituitary adenomas. With this study, we wanted to assess whether mutations in CDKN1B occur among a large cohort of AIP mutation-negative FIPA...

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PMID: 22291433
DOI: 10.1530/ERC-11-0362

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