{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T06:30:59Z","timestamp":1788503459959,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T00:00:00Z","timestamp":1673222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in\n                    <jats:italic>RNU4ATAC<\/jats:italic>\n                    cause microcephalic osteodysplastic primordial dwarfism type I (MOPD1), Roifman syndrome (RS) and Lowry\u2013Wood syndrome (LWS). These conditions demonstrate significant phenotypic heterogeneity yet have overlapping features. Although historically described as discrete conditions they appear to represent a phenotypic spectrum with clinical features not always aligning with diagnostic categories. Clinical variability and ambiguity in diagnostic criteria exist among each disorder. Here we report an individual with a novel genotype and phenotype spanning all three disorders, expanding the phenotypic spectrum of\n                    <jats:italic>RNU4ATAC<\/jats:italic>\n                    \u2010related spliceosomeopathies.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63110","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T13:07:37Z","timestamp":1673269657000},"page":"1094-1100","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Delineating the phenotype of\n                    <i>RNU4ATAC<\/i>\n                    \u2010related spliceosomopathy"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1100-0017","authenticated-orcid":false,"given":"Amanda","family":"Tabib","sequence":"first","affiliation":[{"name":"Paediatrics, John Hunter Children's Hospital  Newcastle New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9778-4344","authenticated-orcid":false,"given":"Christopher M.","family":"Richmond","sequence":"additional","affiliation":[{"name":"Genetic Health QLD Royal Brisbane &amp; Women's Hospital  Herston Queensland Australia"},{"name":"School of Medicine Griffith University  Southport Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0926-7858","authenticated-orcid":false,"given":"Julie","family":"McGaughran","sequence":"additional","affiliation":[{"name":"Genetic Health QLD Royal Brisbane &amp; Women's Hospital  Herston Queensland Australia"},{"name":"Faculty of Medicine University of Queensland  St. Lucia Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,9]]},"reference":[{"issue":"7","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0235655","article-title":"Clinical interpretation of variants identified in RNU4ATAC, a non\u2010coding spliceosomal gene","volume":"15","author":"Benoit\u2010Pilven, C., Besson, A., Putoux, A., Benetollo, C., Saccaro, C., Guguin, J., Sala, G., Cologne, A., Delous, M., Lesca, G., Padgett, R. A., Leutenegger, A. L., Lacroix, V., Edery, P., & Mazoyer, S.","year":"2020","journal-title":"PloS one"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-02434-4"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.071423.119"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1202205"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22116062"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24826"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38581"},{"key":"e_1_2_9_9_1","volume-title":"Adaptive behavior assessment system\u2010II","author":"Harrison P.","year":"2003"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1200587"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.11.061"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.045187.114"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9718"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1205503"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1950-8"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkf609"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1141"}],"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.63110","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63110","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63110","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T19:05:08Z","timestamp":1692385508000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,9]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1002\/ajmg.a.63110"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63110","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,9]]},"assertion":[{"value":"2022-11-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}