Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2

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 a...

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Veröffentlicht in:	European journal of medical genetics 2018-07, Vol.61 (7), p.403-410
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Deep phenotyping Genotype-phenotype correlation No mutation identified (NMI) TSC1 TSC2 Tuberous sclerosis complex (TSC)
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