Genetics and Molecular Biology of Tuberous Sclerosis Complex
نویسندگان
چکیده
منابع مشابه
Genetics and Molecular Biology of Tuberous Sclerosis Complex
Tuberous Sclerosis Complex is a multisystem disorder exhibiting a wide range of manifestations characterized by tumour-like lesions called hamartomas in the brain, skin, eyes, heart, lungs and kidneys. Tuberous Sclerosis Complex is genetically determined with an autosomal dominant inheritance and is caused by inactivating mutations in either the TSC1 or TSC2 genes. TSC1/2 genes play a fundament...
متن کاملGenetics of tuberous sclerosis complex: implications for clinical practice
Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic vari...
متن کاملThe tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated t...
متن کاملTuberous sclerosis complex.
Contrast enhanced computed tomography revealed a large well-circumscribed heterogenous retroperitoneal mass measuring 25 × 20 cm arising from the left kidney with predominant fat attenuation. Multiple smaller lesions were seen in the opposite kidney. Features were suggestive of diffuse angiomyolipomatosis of the kidneys. Hypodense lesions were also seen involving the lungslymphangioleiomyomatos...
متن کاملTuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
BACKGROUND Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective ...
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ژورنال
عنوان ژورنال: Current Genomics
سال: 2008
ISSN: 1389-2029
DOI: 10.2174/138920208786241243