Article
Identification of a de novo TSC2 variant in a Han-Chinese family with tuberous sclerosis complex.
Journal of the Chinese Medical Association : JCMA - 1 Jan 2021
Wu Shan, Guo Yi, Liu Chun, Liu Qingxiang, Deng Hao, Yuan Lamei
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a variety of clinical findings. Variants in the TSC complex subunit 1 gene (TSC1) or the TSC complex subunit 2 gene (TSC2) are responsible for TSC. METHODS: Physical examinations, computed tomography scans, and light microscopy analyses were performed on the TSC patient from a Han-Chinese pedigree. Whole-exome sequencing combined...
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