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Pseudohypoparathyroidism type 1b (PHP-1b) results from methylation defects at the G protein stimulatory α subunit (GNAS) exon A/B-differentially methylated region (DMR). Although microduplications in the GNAS region were recently identified in two PHP-1b patients, genetic information on these patients remained fragmentary.

Complex Genomic Rearrangement Within theGNASRegion Associated With Familial Pseudohypoparathyroidism Type 1b