A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred

Güven Barış Cansu, Bengür Taşkıran, Giampaolo Trivellin, Fabio R. Faucz, Constantine A. Stratakis

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Familial isolated pituitary adenomas (FIPA) constitute 2-3% of pituitary tumours. AIP is the most commonly mutated gene in FIPA. We herein report a novel germline mutation of the AIP gene in a family with FIPA. We present two patients, a father and his 12-year-old daughter, diagnosed clinically and using laboratory measures with acromegaly-gigantism …

Cyclopes and Giants: From Homer’s Odyssey to contemporary genetic diagnosis

Georgios K. Markantes, Anastasia Theodoropoulou, Anastasia K. Armeni, Vasiliki Vasileiou, Constantine A. Stratakis, Neoklis A. Georgopoulos

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Giant is a term used to describe a legendary humanlike being of great stature and strength. In Greek mythology, the giants Cyclopes rebelled against the Olympian Gods in a battle that ended in their final defeat, this resulting in Olympian sovereignty on earth …