Hiroaki Murakami, Yumi Enomoto, Y. Tsurusaki, Y. Sugio, K. Kurosawa
{"title":"A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12","authors":"Hiroaki Murakami, Yumi Enomoto, Y. Tsurusaki, Y. Sugio, K. Kurosawa","doi":"10.1111/cga.12350","DOIUrl":null,"url":null,"abstract":"MED12 is a component of the large multiprotein Mediator complex. MED12 variants have been linked to three different X-linked intellectual disability (ID) syndromes, including Ohdo syndrome of the Maat-Kievit-Brunner phenotype (OSMKB), Opitz-Kaveggia (FG) syndrome, and Lujan-Fryns syndrome (LFS). This article is protected by copyright. All rights reserved.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"4 1","pages":"91 - 93"},"PeriodicalIF":0.0000,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"18","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Congenital anomalies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/cga.12350","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 18
Abstract
MED12 is a component of the large multiprotein Mediator complex. MED12 variants have been linked to three different X-linked intellectual disability (ID) syndromes, including Ohdo syndrome of the Maat-Kievit-Brunner phenotype (OSMKB), Opitz-Kaveggia (FG) syndrome, and Lujan-Fryns syndrome (LFS). This article is protected by copyright. All rights reserved.
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