Article
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex.
Clinical genetics - 1 May 2017
Yang G, Shi Z N, Meng Y, Shi X Y, Pang L Y, Ma S F, Zhang M N, Wang Y Y, Zou L P
Abstract excerpt
We investigated the clinical phenotypes and genetic mutations in Chinese children diagnosed with tuberous sclerosis complex (TSC). Sequencing of TSC1 and TSC2 genes was performed in 117 children with TSC and their parents. Association of TSC gene mutations with clinical manifestations was investigated. All gene mutations were heterozygous including in 16 patients (13.7%) with mutations in TSC1 gene and 101...
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