{"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}
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
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