Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

• Main Authors: Ruixiao Zhang (Author), Jianhong Wang (Author), Qing Wang (Author), Yue Han (Author), Xuejun Liu (Author), Irene Bottillo (Author), Yanhua Lang (Author), Leping Shao (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis complex. Case presentation We describe t...