hrp0092p2-48 | Bone, Growth Plate and Mineral Metabolism | ESPE2019
, Francesca Marta Elli
, Mantovani Giovanna
Introduction: Despite the high detection rate of GNAS molecular defects, about 30% of patients with a clinical suspect of PHP/AHO still lack a confirming molecular diagnosis. Mutations in genes encoding proteins crucial for cAMP-mediated signaling have been recently detected in a small subset of patients negative for GNAS defects, showing a phenotypic overlap between PHP and Acrodysostosis.Clinical case pres...