ea0032p825 | Pituitary–Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013
Aflorei Elena Daniela
, Chen Chenghao
, Klapholz Benjamin
, Grossman Ashley B
, Tapon Nicolas
, Brown Nicholas H
, Stanewsky Ralf
, Korbonits Marta
Introduction: Loss-of-function mutations in AIP are associated with familial isolated pituitary adenoma, often leading to gigantism due to invasive GH-secreting pituitary adenomas. One challenging problem in the management of patients carrying a missense AIP variant is to determine whether the missense variant is a disease-causing mutation or not. As most of the molecular mechanisms involved in the control of growth and the cell cycle are well-conserved, we p...