{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T08:21:37Z","timestamp":1771402897096,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T00:00:00Z","timestamp":1711324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T00:00:00Z","timestamp":1711324800000},"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                    The mediator complex subunit 13 (\n                    <jats:italic>MED13<\/jats:italic>\n                    ) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability, and speech delay with varying severity and course. Additional, extra central nervous system, features include eye or vision problems, hypotonia, congenital heart abnormalities, and dysmorphisms. We describe a 7\u2010year\u2010 and 4\u2010month\u2010old girl evaluated for ASD whose brain magnetic resonance imaging was suggestive of multiple cortical tubers. The exome sequencing (ES \u2010 trio analysis) uncovered a unique, de novo, frameshift variant in the\n                    <jats:italic>MED13<\/jats:italic>\n                    gene (c.4880del, D1627Vfs*17), with a truncating effect on the protein. This case report thus expands the phenotypic spectrum of MED13\u2010related disorders to include brain abnormalities.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63611","type":"journal-article","created":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:59:02Z","timestamp":1711414742000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A de novo frameshift variant in\n                    <scp>\n                      <i>MED13<\/i>\n                    <\/scp>\n                    gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis"],"prefix":"10.1002","volume":"194","author":[{"given":"Gloria","family":"Pantalone","sequence":"first","affiliation":[{"name":"Child Neurology and Psychiatry Unit, \"G. Salesi\" Children's Hospital Azienda Ospedaliero Universitaria delle Marche  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, EpiCARE Member for Rare Diseases IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Rossi","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit IRCCS Istituto Giannina Gaslini  Genoa Italy"},{"name":"Department of Health Sciences (DISSAL) University of Genoa  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Romanelli","sequence":"additional","affiliation":[{"name":"Personal Genomics  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Marasco","sequence":"additional","affiliation":[{"name":"Personal Genomics  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marini","family":"Carla","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, \"G. Salesi\" Children's Hospital Azienda Ospedaliero Universitaria delle Marche  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34222"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4524"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.02.006"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.162"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61994"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.260489497"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R117.794438"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13463"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000502346"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62238"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1887-y"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2022.09.002"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.52290"}],"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.63611","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63611","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63611","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T07:29:14Z","timestamp":1771399754000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63611"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,25]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/ajmg.a.63611"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63611","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,25]]},"assertion":[{"value":"2023-10-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63611"}}