{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T11:01:04Z","timestamp":1783076464376,"version":"3.54.6"},"reference-count":8,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.ejmg.2023.104826","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T11:53:47Z","timestamp":1693396427000},"page":"104826","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype"],"prefix":"10.1016","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4626-148X","authenticated-orcid":false,"given":"Jorge Rom\u00e1n","family":"Corona-Rivera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"Zenteno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vianey","family":"Ordo\u00f1ez-Labastida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica Paola","family":"Cruz-Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo Carolina","family":"Cort\u00e9s-Pastrana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Pe\u00f1a-Padilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucina","family":"Bobadilla-Morales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Corona-Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Mart\u00ednez-Herrera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2023.104826_bib1","article-title":"Revisiting I-BAR proteins at central synapses","volume":"15","author":"Chatzi","year":"2021","journal-title":"Front. Neural Circ."},{"key":"10.1016\/j.ejmg.2023.104826_bib2","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The genotype-tissue expression (GTEx) project","volume":"45","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2023.104826_bib3","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1016\/j.ajhg.2022.08.011","article-title":"The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability","volume":"109","author":"Huang","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2023.104826_bib4","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.860862","article-title":"Congenital hypothyroidism in preterm newborns - the challenges of diagnostics and treatment: a review","volume":"13","author":"Klosinska","year":"2022","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.ejmg.2023.104826_bib5","doi-asserted-by":"crossref","first-page":"985","DOI":"10.2214\/ajr.179.4.1790985","article-title":"Physiologic subperiosteal new bone formation: prevalence, distribution, and thickness in neonates and infants","volume":"179","author":"Kwon","year":"2002","journal-title":"AJR Am. J. Roentgenol."},{"key":"10.1016\/j.ejmg.2023.104826_bib6","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/BF00176107","article-title":"Neonatal duodenal obstruction: a review of 30 consecutive cases","volume":"9","author":"Nerwich","year":"1994","journal-title":"Pediatr. Surg. Int."},{"key":"10.1016\/j.ejmg.2023.104826_bib7","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2023.104826_bib8","first-page":"1121","article-title":"Inguinal hernia and umbilical anomalies","volume":"40","author":"Scherer","year":"1993","journal-title":"Pediatr. Clin."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223001325?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223001325?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:48Z","timestamp":1761710088000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721223001325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":8,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["S1769721223001325"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104826","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104826","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104826"}}