{"title":"在与神经发育迟缓相关的Saethre - Chotzen综合征患者中发现邻近TWIST1的连续基因缺失:HDAC9可能起作用","authors":"Hiroko Shimbo, T. Oyoshi, K. Kurosawa","doi":"10.1111/cga.12216","DOIUrl":null,"url":null,"abstract":"Saethre‐Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"642 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":"{\"title\":\"Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9\",\"authors\":\"Hiroko Shimbo, T. Oyoshi, K. Kurosawa\",\"doi\":\"10.1111/cga.12216\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Saethre‐Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.\",\"PeriodicalId\":93953,\"journal\":{\"name\":\"Congenital anomalies\",\"volume\":\"642 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Congenital anomalies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1111/cga.12216\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Congenital anomalies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/cga.12216","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9
Saethre‐Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.
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