ea0029p207 | Calcium & Vitamin D metabolism | ICEECE2012
Goncalves A.
, Aragues J.
, Baptita F.
, Carmo I.
Introduction: Pseudohypoparathyroidism type la (PHP-1a) is an uncommon disorder that results from an inactivating mutation in the GNAS gene. It can present with resistance to several hormones, in addition to parathyroid hormone (PTH). A characteristic skeletal phenotype also results, referred to as Albrights hereditary osteodystrophy, that occurs because of the crucial role of Gs-α signaling in the growth, differentiation, and structure of these tissues.<p class...