Mass-Spectrometric Analysis with Sequenom EpiTYPER of GNAS Methylation in Pseudohypoparathyroydism Type Ib Patients Reveals Overall Methylation Defects also for the Familial Cases

Sequenom EpiTYPER analysis of GNAS methylation in Pseudohypoparathyroidism type Ib patients reveals overall GNAS methylation defects also for the familial cases. Such abnormalities are not detectable via old methodologies such as PCR followed by methylation specific restriction digestion and are here for the first time described.