{"title":"AMOTL1从头突变与口面裂、眼结肠瘤、房间隔缺损和数字畸形相关:1例报告和文献回顾","authors":"","doi":"10.29011/2575-825x.100223","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":8302,"journal":{"name":"Archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"AMOTL1 De Novo Mutation Associated with Orofacial Clefting, Ocular Colobomas, an Atrial Septal Defect and Digital Anomalies: A Case Report and Review of the Literature\",\"authors\":\"\",\"doi\":\"10.29011/2575-825x.100223\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":8302,\"journal\":{\"name\":\"Archives of pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-11-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives of pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.29011/2575-825x.100223\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.29011/2575-825x.100223","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
AMOTL1 De Novo Mutation Associated with Orofacial Clefting, Ocular Colobomas, an Atrial Septal Defect and Digital Anomalies: A Case Report and Review of the Literature