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- W2015471641 abstract "Pituitary adenomas can occur in a familial context, or they can be isolated cases, sometimes due to a predisposing syndrome. In multiple endocrine neoplasia type 1, they often associate with a mutation of the menin gene, a tumor-suppressing gene. A new germinal mutation predisposing to the development of multiple endocrine neoplasias has recently been identified in MENI-negative subjects on the gene CDKN1B encoding for p27(kip1)protein. Carney Complex syndrome--a rare disease--is in more than 60% of the cases linked to the inactivation mutation of a gene located on 17q22-24 that encodes the regulatory subunit 1 of protein kinase A, PRKARIA. Isolated familial pituitary adenomas represent 1.9 to 3.2% of the population of subjects presenting a pituitary adenoma. Low penetrance non-sense mutations, Q14X, IVS3-IG>A and R304X, in 11q12-11q13 region encoding AIP protein, (Aryl hydrocarbon receptor Interacting Protein), have been described by Vierimaa et al, in Finish patients with pituitary adenoma predispositions." @default.
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- W2015471641 date "2007-06-01" @default.
- W2015471641 modified "2023-09-26" @default.
- W2015471641 title "Adénomes hypophysaires familiaux: aspects cliniques et génétiques" @default.
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- W2015471641 doi "https://doi.org/10.1016/s0003-4266(07)80003-5" @default.
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