Quantitative Analysis of Methylation Defects and Correlation With Clinical Characteristics in Patients With Pseudohypoparathyroidism Type I and GNAS Epigenetic Alterations

Abstract

Similar molecular alterations may lead to a broad spectrum of diseases, from isolated PTH resistance to complete PHP-Ia, and the degree of methylation alterations does not reflect or anticipate the severity and the type of different PHP/AHO manifestations.