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Regardless of the types, the M\u00fcllerian anomalies impose both psychological and physical burdens on patients. Currently, the etiology of M\u00fcllerian anomalies remains largely unclear, which hinders early diagnosis and intervention. Although the advent of next\u2010generation sequencing technologies has promoted a more comprehensive depiction of genetic features of M\u00fcllerian anomalies, there is still a lack of experimental validation for the functions of these genes, where some novel preclinical models having been applied in cancer fields may provide potentially available strategies. Thus, in this review, we aim to summarize the genetic defects and novel validation techniques associated with M\u00fcllerian anomalies. Elucidating the genetic mechanisms involving M\u00fcllerian anomalies can pave the way for the development of early diagnostic strategies and preventional measures in the future.<\/jats:p>","DOI":"10.1111\/cge.70137","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T12:47:15Z","timestamp":1768913235000},"page":"615-629","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unraveling the Genetic Mysteries of M\u00fcllerian Anomalies: Research Approaches and Clinical Significance"],"prefix":"10.1111","volume":"109","author":[{"given":"Jingfang","family":"Li","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Hou","sequence":"additional","affiliation":[{"name":"Department 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