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Risk category system to identify pituitary adenoma patients with AIP mutations.
BACKGROUND: Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system ...
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.
While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or ...
Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism.
Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual ...