{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T08:04:17Z","timestamp":1787731457908,"version":"build-2784847793"},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"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":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in\n                    <jats:italic>ZNF335<\/jats:italic>\n                    are one of the genetic causes of microcephaly, reported only in the past decade. It regulates neural progenitor proliferation and neurogenesis by interacting with a H3K4 methyltransferase complex. Biallelic pathogenic\n                    <jats:italic>ZNF335<\/jats:italic>\n                    variants predispose to neuronal cell death and aberrant differentiation, thus causing secondary microcephaly. These neurodevelopmental anomalies lead to imaging findings in the cortex, posterior fossa, and basal ganglia. We report an individual of Nepalese ancestry with a novel homozygous ZNF\n                    <jats:italic>335<\/jats:italic>\n                    variant (c.3591\u2009+\u20092dup) (p.?) (NM_022095.3) which on further RNA analysis confirmed a splice site variant in intron 23. The patient presented with primary microcephaly with atrophic cerebral hemispheres, oversimplification of gyri, basal ganglia, and corpus callosal atrophy. Literature review on the topic revealed a spectrum of brain abnormalities, which can present either with a primary or secondary microcephaly depending upon the underlying genetic variant.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63593","type":"journal-article","created":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T02:35:11Z","timestamp":1711679711000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel biallelic\n                    <scp>\n                      <i>ZNF335<\/i>\n                    <\/scp>\n                    variant causing primary microcephaly:\n                    <scp>A<\/scp>\n                    case report and radiological review"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6556-0234","authenticated-orcid":false,"given":"Dhrumil Deveshkumar","family":"Patel","sequence":"first","affiliation":[{"name":"Department of Radiology Nemours Children's Health  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen W.","family":"Gripp","sequence":"additional","affiliation":[{"name":"Department of Genetics Nemours Children's Health  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Wadman","sequence":"additional","affiliation":[{"name":"Department of Genetics Nemours Children's Health  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ishita","family":"Mishra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics KB Bhabha Hospital  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinay","family":"Kandula","sequence":"additional","affiliation":[{"name":"Department of Radiology Nemours Children's Health  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2020.1833006"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2006.06.006"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu110"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopha.2023.115257"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-019-02991-8"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0897"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13260"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-021-01955-y"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/429930"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.10.043"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63593","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63593","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63593","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T07:28:41Z","timestamp":1771399721000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63593"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,28]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/ajmg.a.63593"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63593","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,28]]},"assertion":[{"value":"2023-11-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63593"}}