{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:19:20Z","timestamp":1787894360119,"version":"build-2784847793"},"reference-count":3,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T00:00:00Z","timestamp":1766620800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T00:00:00Z","timestamp":1766620800000},"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 A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a biallelic likely pathogenic variant in the\n                    <jats:italic>NRDC<\/jats:italic>\n                    gene in two Iranian siblings with developmental delay, microcephaly, hypotonia, seizures, and absent speech. Exome sequencing (ES) identified a frameshift deletion in exon 15 of\n                    <jats:italic>NRDC<\/jats:italic>\n                    (NM_001101662.2): c.1702_1703del (p.Met568Valfs*2), confirmed to segregate with disease in the family. This is the second report implicating biallelic\n                    <jats:italic>NRDC<\/jats:italic>\n                    gene variants in neurodevelopmental disorders. Our findings expand the phenotypic spectrum and support a potential role for\n                    <jats:italic>NRDC<\/jats:italic>\n                    in severe neurodevelopmental delay.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70039","type":"journal-article","created":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T06:40:10Z","timestamp":1766731210000},"page":"1105-1108","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic Variant in\n                    <scp>\n                      <i>NRDC<\/i>\n                    <\/scp>\n                    Gene in Two Siblings With Developmental Delay and Seizures"],"prefix":"10.1002","volume":"200","author":[{"given":"Fatemeh","family":"Fatehi","sequence":"first","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeinab","family":"Ghorbanoghli","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahdieh","family":"Kooshki","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shima Zamanian","family":"Najafabadi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadijeh","family":"Noudehi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sepideh","family":"Amooian","sequence":"additional","affiliation":[{"name":"Teleghani Children's Hospital  Gorgan Iran"},{"name":"Golestan University of Medical Sciences  Gorgan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aidin","family":"Taghiloo","sequence":"additional","affiliation":[{"name":"Adl Hospital Radiology Department  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Makvand","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7778","authenticated-orcid":false,"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"},{"name":"Genetics Research Center, University of Social Welfare &amp; Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.08.009"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.2438"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2016.11.038"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70039","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmga.70039","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70039","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:43:54Z","timestamp":1787892234000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmga.70039"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,25]]},"references-count":3,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/ajmga.70039"],"URL":"https:\/\/doi.org\/10.1002\/ajmga.70039","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,25]]},"assertion":[{"value":"2025-08-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}