{"title":"奈格综合征:一名埃及婴儿的临床和放射学表现报告","authors":"E. Abdalla","doi":"10.4172/2157-7412.1000i103","DOIUrl":null,"url":null,"abstract":"Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"29 1","pages":"1-2"},"PeriodicalIF":0.0000,"publicationDate":"2016-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Nager Syndrome: Report of Clinical and Radiological Findings in an EgyptianInfant\",\"authors\":\"E. Abdalla\",\"doi\":\"10.4172/2157-7412.1000i103\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.\",\"PeriodicalId\":89584,\"journal\":{\"name\":\"Journal of genetic syndromes & gene therapy\",\"volume\":\"29 1\",\"pages\":\"1-2\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-03-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of genetic syndromes & gene therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4172/2157-7412.1000i103\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of genetic syndromes & gene therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4172/2157-7412.1000i103","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Nager Syndrome: Report of Clinical and Radiological Findings in an EgyptianInfant
Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.
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