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Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

27 Nov 2017

Abstract excerpt

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the brain and other vital organs. The genes implicated in disease development are TSC1 and TSC2. Here, we have performed mutational analysis followed by a genotype-phenotype correlation study based on the clinical characteristics of the affected individuals. Twenty unrelated probands or families from Greece have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29196670
DOI: 10.1038/s41598-017-16988-w

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