{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:02:56Z","timestamp":1790618576274,"version":"4.1.0"},"reference-count":78,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T00:00:00Z","timestamp":1749168000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T00:00:00Z","timestamp":1749168000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This research review of Myhre syndrome is a summary of published articles which provide a valuable resource for readers, researchers, and future authors. It traces the evolution of the Laryngotracheal\u2013Arthropathy\u2013Prognathism\u2013Short Stature (LAPS) syndrome to the current eponym of Myhre syndrome. These allelic disorders are caused by pathogenic variants in\n                    <jats:italic>SMAD4<\/jats:italic>\n                    . After the initial report over 40\u2009years ago, the steady publication of case reports and small series was accelerated following the discovery of the pathogenic variants in\n                    <jats:italic>SMAD4.<\/jats:italic>\n                    The articles in this review include numerous case reports and small series, reports about basic science, the discovery of the causative gene, the emergence of the natural history in larger studies, and articles about specific features, especially the cardiovascular system and airways. We hope this analysis provides a foundation for future research that may extend symptom\u2010based treatment to genetic\u2010based therapy.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.32145","type":"journal-article","created":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T06:05:48Z","timestamp":1749189948000},"page":"244-255","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Research Review of Myhre Syndrome"],"prefix":"10.1002","volume":"199","author":[{"given":"Maggie R.","family":"Brand","sequence":"first","affiliation":[{"name":"Medical Genetics, Department of Pediatrics Mass General for Children  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Monsberger","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio 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