{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T08:43:49Z","timestamp":1773045829330,"version":"3.50.1"},"reference-count":47,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Natural Science Foundation of China","award":["82370907"],"award-info":[{"award-number":["82370907"]}]},{"name":"National Natural Science Foundation of China","award":["81974145"],"award-info":[{"award-number":["81974145"]}]},{"name":"National Natural Science Foundation of China","award":["81771052"],"award-info":[{"award-number":["81771052"]}]},{"name":"National Natural Science Foundation of China","award":["2021ZDLSF02-13"],"award-info":[{"award-number":["2021ZDLSF02-13"]}]},{"name":"National Natural Science Foundation of China","award":["LCC202201"],"award-info":[{"award-number":["LCC202201"]}]},{"name":"Key R&amp;D Plan of Shaanxi Province","award":["82370907"],"award-info":[{"award-number":["82370907"]}]},{"name":"Key R&amp;D Plan of Shaanxi Province","award":["81974145"],"award-info":[{"award-number":["81974145"]}]},{"name":"Key R&amp;D Plan of Shaanxi Province","award":["81771052"],"award-info":[{"award-number":["81771052"]}]},{"name":"Key R&amp;D Plan of Shaanxi Province","award":["2021ZDLSF02-13"],"award-info":[{"award-number":["2021ZDLSF02-13"]}]},{"name":"Key R&amp;D Plan of Shaanxi Province","award":["LCC202201"],"award-info":[{"award-number":["LCC202201"]}]},{"name":"Key Project of the National Oral Diseases Clinical Medicine Research Center","award":["82370907"],"award-info":[{"award-number":["82370907"]}]},{"name":"Key Project of the National Oral Diseases Clinical Medicine Research Center","award":["81974145"],"award-info":[{"award-number":["81974145"]}]},{"name":"Key Project of the National Oral Diseases Clinical Medicine Research Center","award":["81771052"],"award-info":[{"award-number":["81771052"]}]},{"name":"Key Project of the National Oral Diseases Clinical Medicine Research Center","award":["2021ZDLSF02-13"],"award-info":[{"award-number":["2021ZDLSF02-13"]}]},{"name":"Key Project of the National Oral Diseases Clinical Medicine Research Center","award":["LCC202201"],"award-info":[{"award-number":["LCC202201"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fahr\u2019s syndrome is a rare neurodegenerative disorder with limited research on its oral manifestations. This study investigates the dental features and genetic background of Fahr\u2019s syndrome through a pedigree analysis and a retrospective literature study. A clinical examination and whole-exome sequencing (WES) were conducted on a female patient with Fahr\u2019s syndrome and pseudohypoparathyroidism, along with her family members. The patient presented with super-numerary teeth, tooth agenesis, enamel hypoplasia, and abnormal tooth eruption. The WES did not reveal any known pathogenic mutations related to pseudohypoparathyroidism or Fahr\u2019s disease. However, genetic variations in KIF1A, FZD8, and PDGFA may underlie these dental abnormalities. Additionally, a retrospective analysis of 22 reported cases from PubMed and the Human Gene Mutation Database (1 January 1965\u201330 June 2024) was conducted with keywords such as \u201cFahr\u2019s disease\u201d, \u201cFahr\u2019s syndrome\u201d, \u201cdental\u201d, and \u201chypoparathyroidism\u201d. The analysis showed that patients with Fahr\u2019s syndrome, pseudohypoparathyroidism, and idiopathic hypoparathyroidism exhibited similar oral abnormalities, including tooth agenesis, root dysplasia, dental malformations, and abnormal tooth eruption. Variations in the incidence of tooth agenesis and dental malformation among these groups may be linked to differences in parathyroid hormone metabolism. These findings suggest oral abnormalities are the key local features of Fahr\u2019s syndrome and related parathyroid disorders.<\/jats:p>","DOI":"10.3390\/ijms252111611","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T06:29:57Z","timestamp":1730183397000},"page":"11611","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Fahr\u2019s Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-4612-2988","authenticated-orcid":false,"given":"Xiangpu","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi\u2019an 710000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taoyun","family":"Xu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi\u2019an 710000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulong","family":"Zhu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi\u2019an 710000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6747-1734","authenticated-orcid":false,"given":"Xiaohong","family":"Duan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi\u2019an 710000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/mds.1049","article-title":"Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry","volume":"16","author":"Manyam","year":"2001","journal-title":"Mov. 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