Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B)
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The parental imprinted GNAS complex locus encodes the α-subunit of the stimulatory G protein. Pseudohypoparathyroidism type Ib (PHP1B) is characterized by renal resistance to parathormone and is caused by epigenetic anomalies, ie, at least the loss of methyla... ...
