{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:04:16Z","timestamp":1787069056129,"version":"build-2736575974"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009104","name":"Department of Health Research, India","doi-asserted-by":"publisher","award":["GIA\/2017\/000280\/PRCGIA"],"award-info":[{"award-number":["GIA\/2017\/000280\/PRCGIA"]}],"id":[{"id":"10.13039\/501100009104","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>MYRF<\/jats:italic>\n                    monoallelic variants have been described in syndromic forms characterized by cardiac\u2010urogenital syndrome and isolated nanophthalmos with\/without minor systemic manifestations. We describe a large family with a paternally inherited pathogenic variant in\n                    <jats:italic>MYRF<\/jats:italic>\n                    that manifested as congenital diaphragmatic hernia (CDH), cardiac and urogenital abnormalities, and\/or nanophthalmos with significant intrafamilial variability.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62744","type":"journal-article","created":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T00:19:22Z","timestamp":1648858762000},"page":"2187-2191","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent\n                    <scp>\n                      <i>MYRF<\/i>\n                    <\/scp>\n                    variant"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7108-1974","authenticated-orcid":false,"given":"Neerja","family":"Gupta","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mounika","family":"Endrakanti","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noopur","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vatsla","family":"Dadhwal","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamal","family":"Naini","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smita","family":"Manchanda","sequence":"additional","affiliation":[{"name":"Department of Radiology All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ragib","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manisha","family":"Jana","sequence":"additional","affiliation":[{"name":"Department of Radiology All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40360"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.04.031"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008130"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.18-26275"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-020-01659-8"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1069-12.2012"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38620"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007822"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_11_1","first-page":"527","article-title":"Autosomal dominant nanophthalmos and high hyperopia associated with a C\u2010terminal frameshift variant in MYRF","volume":"25","author":"Siggs O. 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