ea0037oc3.1 | Calcium, vitamin D and bone | ECE2015
Elli Francesca Marta
, Boldrin Valentina
, Parazzi Valentina
, Ragni Enrico
, Bordogna Paolo
, Spada Anna
, Lazzari Lorenza
, Mantovani Giovanna
Epi/genetic defects at the imprinted GNAS locus, that encodes the α subunit of the stimulatory G protein (Gsα), have been associated with a heterogeneous group of rare diseases, termed as Pseudohypoparathyroidism. Most GNAS-based disorders have the common feature of episodic de novo formation of heterotopic ossifications (HO) in subcutaneous tissues. The mosaic tissue distribution of HO suggests that pathogenesis involves an abnormal differentiation of precu...