{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T11:50:13Z","timestamp":1787226613370,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T00:00:00Z","timestamp":1687132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Marshall\u2013Smith syndrome (MSS) and Malan syndrome (MS) are both allelic disorders caused by mutations in the <jats:italic>NFIX<\/jats:italic> gene. MS is characterized by overgrowth, intellectual disability, distinctive facial features, and accelerated skeletal maturation. On the other hand, clinical features of MSS consist of advanced bone age, dysmorphic features, intellectual disability, and failure to thrive at birth. In this study, we presented the clinical and molecular findings of two different patients with MS and MSS as a rare cause of intellectual disability and reported two novel variants in the <jats:italic>NFIX<\/jats:italic> gene. <jats:italic>NFIX<\/jats:italic> gene sequencing revealed a novel heterozygous c.1287delC (p.G430Vfs*34) mutation in patient 1 whose clinical diagnosis was compatible with Marshall\u2013Smith syndrome, and in the second patient, physical features consistent with Malan syndrome, was detected a heterozygous one nucleotide duplication, c.303dupC (pCys102LeufsTer17).<\/jats:p>","DOI":"10.1002\/jdn.10280","type":"journal-article","created":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T02:30:32Z","timestamp":1687228232000},"page":"479-485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A rare cause of intellectual disability: Novel mutations of <i>NFIX<\/i> gene in two patients with clinical features of Marshall\u2013Smith syndrome and Malan syndrome"],"prefix":"10.1002","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0853-3253","authenticated-orcid":false,"given":"Ceren Y\u0131lmaz","family":"Uzman","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics S.B.\u00dc. Dr. Beh\u00e7et Uz Children's Education and Research Hospital  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6795-3012","authenticated-orcid":false,"given":"Semra","family":"G\u00fcrsoy","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics S.B.\u00dc. Dr. Beh\u00e7et Uz Children's Education and Research Hospital  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0382-3446","authenticated-orcid":false,"given":"Filiz","family":"Hazan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics S.B.\u00dc. Dr. Beh\u00e7et Uz Children's Education and Research Hospital  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30580"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2014.224"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.162"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.001"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.135"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12787"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23563"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31362"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31747"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T00:11:31Z","timestamp":1692231091000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,19]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/jdn.10280"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10280","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,19]]},"assertion":[{"value":"2022-11-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}