Article
Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.
European journal of human genetics : EJHG - 1 Jul 2011
Dunlop Elaine A, Dodd Kayleigh M, Land Stephen C, Davies Peter A, Martins Nicole, Stuart Helen, McKee Shane, Kingswood Chris, Saggar Anand, Corderio Isabel, Medeira Ana Maria Duarte, Kingston Helen, Sampson Julian R, Davies David Mark, Tee Andrew R
Abstract excerpt
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the growth of benign tumours in multiple organs, including the brain and kidneys, alongside intellectual disability and seizures. Identification of a causative mutation in TSC1 or TSC2 is important for accurate genetic counselling in affected families, but it is not always clear from genetic data whether a sequence variant is pathogenic or...
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