6岁女童结节性硬化症并发视网膜星形细胞瘤

Türkiye Klinikleri Journal of Case Reports Pub Date : 2020-01-01 DOI:10.5336/caserep.2020-73268

Selda Celik Dulger, M. Y. Teke, A. Dilli

{"title":"6岁女童结节性硬化症并发视网膜星形细胞瘤","authors":"Selda Celik Dulger, M. Y. Teke, A. Dilli","doi":"10.5336/caserep.2020-73268","DOIUrl":null,"url":null,"abstract":"systemic neurocutaneous genetic condition with an incidence of almost 1 in 6000 to 10000 live births.1 It is autosomal dominant inheritance and approximately two-thirds of the cases occur with spontaneous mutation. The clinical presentation caused by dysfunction of hamartin and tuberin proteins that are products of TSC1 and TSC2 genes is quite variable. The disease is characterized by hamartomas affecting multiple organs, including skin, brain, heart, kidney, lungs and eye.2","PeriodicalId":23460,"journal":{"name":"Türkiye Klinikleri Journal of Case Reports","volume":"85 1","pages":"137-140"},"PeriodicalIF":0.0000,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Retinal Astrocytoma in a 6-year-old Girl with Tuberous Sclerosis Complex\",\"authors\":\"Selda Celik Dulger, M. Y. Teke, A. Dilli\",\"doi\":\"10.5336/caserep.2020-73268\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"systemic neurocutaneous genetic condition with an incidence of almost 1 in 6000 to 10000 live births.1 It is autosomal dominant inheritance and approximately two-thirds of the cases occur with spontaneous mutation. The clinical presentation caused by dysfunction of hamartin and tuberin proteins that are products of TSC1 and TSC2 genes is quite variable. The disease is characterized by hamartomas affecting multiple organs, including skin, brain, heart, kidney, lungs and eye.2\",\"PeriodicalId\":23460,\"journal\":{\"name\":\"Türkiye Klinikleri Journal of Case Reports\",\"volume\":\"85 1\",\"pages\":\"137-140\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Türkiye Klinikleri Journal of Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5336/caserep.2020-73268\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Türkiye Klinikleri Journal of Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5336/caserep.2020-73268","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

摘要

一种全身性神经皮肤遗传疾病，每6000到10000个活产儿中几乎有1个发病它是常染色体显性遗传，大约三分之二的病例发生自发突变。TSC1和TSC2基因产物错构体和tuberin蛋白功能障碍引起的临床表现变化很大。这种疾病的特点是错构瘤影响多个器官，包括皮肤、大脑、心脏、肾脏、肺和眼睛

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Retinal Astrocytoma in a 6-year-old Girl with Tuberous Sclerosis Complex

systemic neurocutaneous genetic condition with an incidence of almost 1 in 6000 to 10000 live births.1 It is autosomal dominant inheritance and approximately two-thirds of the cases occur with spontaneous mutation. The clinical presentation caused by dysfunction of hamartin and tuberin proteins that are products of TSC1 and TSC2 genes is quite variable. The disease is characterized by hamartomas affecting multiple organs, including skin, brain, heart, kidney, lungs and eye.2

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Türkiye Klinikleri Journal of Case Reports

自引率

0.00%

发文量