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Aisha Siraj, Negar Salehi
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant disease, associated with mutations on either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. The incidence of TSC is estimated as 1 in 5,000-10,000 live births. (1) TSC usually presents with neurologic disorders including seizures, mental retardation, autism, brain lesions [cortical tubers, sub-ependymal nodules (SEN)], and sub-ependymal giant-cell astrocytomas. TSC can also present with cardiac, pulmonary, renal and ophthalmic findings such as angiomyolipomas (AML) of the kidneys and rhabdomyomas of the heart. There are several distinct dermatologic findings including facial angiofibroma, Shagreen patches and Hypomelanic macules (Ash-Leaf spots).