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Pathogenic variants in the <jats:italic>CUL7<\/jats:italic>, <jats:italic>OBSL1<\/jats:italic>, and <jats:italic>CCDC8<\/jats:italic> genes are implicated in the pathogenesis of 3M syndrome. In this review, we discuss the history, epidemiology, molecular basis, clinical features, and management strategies for 3M syndrome. Moreover, we report on 11 new patients (from 9 unrelated families) with short stature and dysmorphic features consistent with 3M syndrome, in whom we identified five novel pathogenic variants expanding the genetic landscape of the syndrome. Finally, we have reviewed the molecularly confirmed cases of 3M published to date.<\/jats:p>","DOI":"10.1002\/ajmg.a.64068","type":"journal-article","created":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T07:16:57Z","timestamp":1743232617000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families"],"prefix":"10.1002","volume":"197","author":[{"given":"Shaymaa","family":"Elsayed","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology and Diabetology Unit, Faculty of Medicine Alexandria University  Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gehad A.","family":"Elmakkawy","sequence":"additional","affiliation":[{"name":"Human Genetics Department, Medical Research Institute Alexandria University  Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim M.","family":"Abdelrazek","sequence":"additional","affiliation":[{"name":"Human Genetics Department, Medical Research Institute Alexandria University  Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dina A.","family":"Fawzy","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetology Unit, Faculty of Medicine Alexandria University  Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JiHye","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics 3billion Inc.  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