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Osteopetrosis presents a series of clinical manifestations, including craniofacial deformities and dental problems. However, few previous reports have focused on the features of craniofacial and dental problems in osteopetrosis. In this review, we go through the clinical features, types, and related pathogenic genes of osteopetrosis. Then we summarize and describe the characteristics of craniofacial and dental abnormalities in osteopetrosis that have been published in PubMed from 1965 to the present. We found that all 13 types of osteopetrosis have craniomaxillofacial and dental phenotypes. The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1), osteopetrosis-associated transmembrane protein 1 (OSTM1), pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed. We conclude that the telltale craniofacial and dental abnormalities are important for dentists and other clinicians in the diagnosis of osteopetrosis and other genetic bone diseases.<\/jats:p>","DOI":"10.3390\/ijms241210412","type":"journal-article","created":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T01:35:11Z","timestamp":1687311311000},"page":"10412","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis"],"prefix":"10.3390","volume":"24","author":[{"given":"Yu","family":"Ma","sequence":"first","affiliation":[{"name":"College of Life Sciences, Northwest University, Xi\u2019an 710069, China"},{"name":"State Key Laboratory of Military Stomatology, 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 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yali","family":"Xu","sequence":"additional","affiliation":[{"name":"College of Life Sciences, Northwest University, Xi\u2019an 710069, China"},{"name":"State Key Laboratory of Military Stomatology, 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 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanli","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology, 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 710032, 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 Military Stomatology, 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 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s11914-018-0415-2","article-title":"Genetics of Osteopetrosis","volume":"16","author":"Palagano","year":"2018","journal-title":"Curr. 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