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- W4280496933 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." @default.
- W4280496933 created "2022-05-22" @default.
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- W4280496933 date "2022-05-01" @default.
- W4280496933 modified "2023-10-16" @default.
- W4280496933 title "Fahr syndrome discovered in adulthood revealing a rare <i>GNAS</i> mutation in pseudohypoparathyroidism type 1a in a Tunisian family" @default.
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- W4280496933 doi "https://doi.org/10.1002/ccr3.5849" @default.
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