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Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the <jats:italic>STK11<\/jats:italic> mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C\u2009&gt;\u2009A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the <jats:italic>STK11<\/jats:italic> variant spectrum.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-021-01900-7","type":"journal-article","created":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T08:03:07Z","timestamp":1623139387000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Delayed diagnosis of Peutz\u2013Jeghers syndrome due to pathological information loss or mistake in family\/personal history"],"prefix":"10.1186","volume":"16","author":[{"given":"Yu-Liang","family":"Jiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Dong","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bai-Rong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"En-Da","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0243-2873","authenticated-orcid":false,"given":"Zi-Ye","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,8]]},"reference":[{"key":"1900_CR1","doi-asserted-by":"publisher","first-page":"1447","DOI":"10.1053\/gast.2000.20228","volume":"119","author":"FM Giardiello","year":"2000","unstructured":"Giardiello FM, Brensinger JD, Tersmette AC, et al. 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