Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family.

ABSTRACT: Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP-1a. In this report, we present a familial PHP-1a and a novel mutation of the GNAS gene.

SUBMITTER: Debbabi W 

PROVIDER: S-EPMC9109644 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature