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Pathogenic variants were identified by whole-exome sequencing (WES) and Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three variants in\n                      <jats:italic>GLI3<\/jats:italic>\n                      were identified in three unrelated families, including a novel deletion variant (c.1372del, p.Thr458GlnfsTer44), a novel insertion-deletion (indel) variant (c.1967_1968delinsAA, p.Ser656Ter), and a nonsense variant (c.2374\u00a0C\u2009&gt;\u2009T, p.Arg792Ter). These variants were present exclusively in patients but not in healthy individuals.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We identified three pathogenic\n                      <jats:italic>GLI3<\/jats:italic>\n                      variants in polydactyly patients, broadening the genetic spectrum of\n                      <jats:italic>GLI3<\/jats:italic>\n                      and contributing significantly to genetic counseling and diagnosis for polydactyly.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13018-024-04928-0","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T05:05:31Z","timestamp":1722315931000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly"],"prefix":"10.1186","volume":"19","author":[{"given":"Run-Yan","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Si-Hua","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,30]]},"reference":[{"issue":"01","key":"4928_CR1","first-page":"63","volume":"08","author":"N Zhang","year":"2023","unstructured":"Zhang N, Zhong WY, Tian W. 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