{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T04:26:06Z","timestamp":1764476766681,"version":"3.46.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T00:00:00Z","timestamp":1652659200000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,5]]},"abstract":"Abstract<\/jats:title>\n \n 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\u20101a. In this report, we present a familial PHP\u20101a and a novel mutation of the\n GNAS<\/jats:italic>\n gene.\n <\/jats:p>","DOI":"10.1002\/ccr3.5849","type":"journal-article","created":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T09:28:30Z","timestamp":1652693310000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Fahr syndrome discovered in adulthood revealing a rare\n GNAS<\/i>\n mutation in pseudohypoparathyroidism type 1a in a Tunisian family"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1689-1771","authenticated-orcid":false,"given":"Wided","family":"Debbabi","sequence":"first","affiliation":[{"name":"Department of Endocrinology Faculty of Medicine of Sousse Ibn Jazzar University Hospital Kairouan University of Medicine Kairouan 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