{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T08:24:05Z","timestamp":1786955045024,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T00:00:00Z","timestamp":1786924800000},"content-version":"vor","delay-in-days":228,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"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":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    The\n                    <jats:italic>MYRF<\/jats:italic>\n                    gene encodes a pleiotropic transcription factor essential for the development of multiple organ systems, including the heart, lungs, diaphragm, and genitourinary tract. Pathogenic variants in\n                    <jats:italic>MYRF<\/jats:italic>\n                    are associated with a multisystem disorder commonly referred to as MYRF\u2010related cardiac\u2010urogenital syndrome (CUGS). We describe a term female neonate with a maternally inherited likely pathogenic\n                    <jats:italic>MYRF<\/jats:italic>\n                    variant (c.1305_1311\u2009+\u20091dup), a splice\u2010site duplication predicted to disrupt normal gene function. The patient presented with complex congenital anomalies, including scimitar syndrome, right\u2010sided congenital diaphragmatic hernia with hepatopulmonary fusion, pulmonary hypoplasia, and uterine didelphys. Several of these features have been individually reported in association with\n                    <jats:italic>MYRF<\/jats:italic>\n                    ; however, uterine didelphys represents a previously unreported M\u00fcllerian duct anomaly within the MYRF\u2010related phenotypic spectrum. The clinical course was complicated by severe pulmonary hypertension, refractory hypoxemia, and necrotizing enterocolitis, culminating in neonatal death despite aggressive medical management. This case highlights a severe neonatal presentation of MYRF\u2010related disease in a female patient with an inherited pathogenic variant and expands the recognized phenotypic spectrum to include uterine didelphys. Recognition of sex\u2010specific manifestations and variable penetrance in MYRF\u2010related disorders is important for accurate diagnosis, prognostication, and genetic counseling in neonates with multisystem congenital anomalies.\n                  <\/jats:p>","DOI":"10.1155\/crpe\/8646210","type":"journal-article","created":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T07:25:33Z","timestamp":1786951533000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n                    <i>MYRF<\/i>\n                    Variant Presenting With Scimitar Syndrome, Hepatopulmonary Fusion, Right\u2010Sided Congenital Diaphragmatic Hernia, and Uterine Didelphys"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-7201-3302","authenticated-orcid":false,"given":"Gul","family":"Sher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3734-021X","authenticated-orcid":false,"given":"Samantha","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-9429-4681","authenticated-orcid":false,"given":"Rahul","family":"Adwani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4340-8247","authenticated-orcid":false,"given":"Jai Parkash","family":"Udassi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,17]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001625"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12264-021-00678-9"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61182"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007822"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62744"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1080\/09513590.2024.2331072"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.1027832"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38620"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6700"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-018-0444-7"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/8646210","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crpe\/8646210","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/8646210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T07:25:35Z","timestamp":1786951535000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crpe\/8646210"}},"subtitle":[],"editor":[{"given":"Baisakhi","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crpe\/8646210"],"URL":"https:\/\/doi.org\/10.1155\/crpe\/8646210","archive":["Portico"],"relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"value":"2090-6803","type":"print"},{"value":"2090-6811","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-05-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8646210"}}