Article
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
European journal of medical genetics - 1 Jul 2018
Peron Angela, Vignoli Aglaia, Briola Francesca La, Morenghi Emanuela, Tansini Lucia, Alfano Rosa Maria, Bulfamante Gaetano, Terraneo Silvia, Ghelma Filippo, Banderali Giuseppe, Viskochil David H, Carey John C, Canevini Maria Paola
Abstract excerpt
Tuberous Sclerosis Complex (TSC) is a multisystemic condition caused by mutations in TSC1 or TSC2, but a pathogenic variant is not identified in up to 10% of the patients. The aim of this study was to delineate the phenotype of pediatric and adult patients with a definite clinical diagnosis of TSC and no mutation identified in TSC1 or TSC2. We collected molecular and clinical data of 240 patients with TSC,...
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