Endocrine Abstracts

The majority of patients affected with pseudohypoparathyroidism type 1b (PHP-1b) display loss of imprinting (LOI) encompassing the GNAS locus responsible for decreased Gsa expression in target tissues and PTH resistance. In other imprinting disorders like Silver-Russell, Wiedemann-Beckwith syndromes or transient neonatal diabetes mellitus due to LOI of the imprinted 11p15 and 6q24 regions respectively, we and others have shown that the LOI may spread over to other imprinted lo...