{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:52:37Z","timestamp":1790473957898,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T00:00:00Z","timestamp":1511222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"CranioRespiro"},{"name":"E-Rare Cranirare"},{"name":"Universit\u00e9 Sorbonne Paris","award":["SPC\/JFG\/2013-031"],"award-info":[{"award-number":["SPC\/JFG\/2013-031"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (<jats:italic>MED13L<\/jats:italic>) in one patient prompted the investigation of copy number variants in <jats:italic>MED13L<\/jats:italic> in the other, leading to the identification of an intragenic deletion. Disruption of <jats:italic>MED13L<\/jats:italic>, encoding a component of the Mediator complex, is increasingly recognized as the cause of an intellectual disability syndrome with associated facial dysmorphism. Our findings suggest that <jats:italic>MED13L<\/jats:italic>\u2013related disorders are a possible differential diagnosis for syndromic PRS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38536","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T05:42:16Z","timestamp":1511242936000},"page":"181-186","source":"Crossref","is-referenced-by-count":18,"title":["<i>MED13L<\/i> loss\u2010of\u2010function variants in two patients with syndromic Pierre Robin sequence"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9300-8399","authenticated-orcid":false,"given":"Christopher T.","family":"Gordon","sequence":"first","affiliation":[{"name":"Laboratory of Embryology and Genetics of Congenital Malformations Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) UMR 1163 Institut Imagine Paris France"},{"name":"Paris Descartes\u2010Sorbonne Paris Cit\u00e9 Universit\u00e9 Institut Imagine Paris 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