A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

Comparing the phenotype of PHPIa patients harboring deleterious truncating mutations (only nonsense and frameshift mutations, which most probably cause a loss of protein activity, n = 33), with those patients harboring missense mutations ( n = 31), we observed a highly significant difference on subcutaneous calcifications ( P = 2.6e-06).

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