Condition: Pseudohypoparathyroidism Type 1C


rs397514456 in GNAS gene and Pseudohypoparathyroidism Type 1C PMID 21488135 2011 Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.