{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T14:40:41Z","timestamp":1787928041232,"version":"build-2784847793"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T00:00:00Z","timestamp":1518652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["K12HD043245\u201014"],"award-info":[{"award-number":["K12HD043245\u201014"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["T32GM008638\u201021"],"award-info":[{"award-number":["T32GM008638\u201021"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin\u2010related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis. Gross neurologic functioning appears to be within normal limits. In both individuals a de novo variant in\n                      <jats:italic>MYRF<\/jats:italic>\n                      was identified using exome sequencing. Neither variant is found in gnomAD. Heterozygous variants in\n                      <jats:italic>MYRF<\/jats:italic>\n                      should be considered in patients with variants of Scimitar syndrome and urogenital anomalies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38620","type":"journal-article","created":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T07:43:44Z","timestamp":1518680624000},"page":"969-972","source":"Crossref","is-referenced-by-count":54,"title":["De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies"],"prefix":"10.1002","volume":"176","author":[{"given":"Hailey","family":"Pinz","sequence":"first","affiliation":[{"name":"Divisionof Medical Genetics Department of Pediatrics Saint Louis University School of Medicine Saint Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise C.","family":"Pyle","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7922-7480","authenticated-orcid":false,"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara","family":"Skraban","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Tarpinian","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen R.","family":"Braddock","sequence":"additional","affiliation":[{"name":"Divisionof Medical Genetics Department of Pediatrics Saint Louis University School of Medicine Saint Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Telegrafi","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin G.","family":"Monaghan","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5748-3507","authenticated-orcid":false,"given":"Elizabeth J.","family":"Bhoj","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,2,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001625"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-017-1741-7"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.04.031"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M113.035600"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003907"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx080"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2017.03.022"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2012-13-8-418"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1121621109"}],"container-title":["American Journal of Medical Genetics Part 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