Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8644218 | European Journal of Medical Genetics | 2018 | 32 Pages |
Abstract
This study provides a systematic clinical characterization of patients with TSC and facilitates the delineation of a distinctive phenotype indicative of NMI patients, with important implications for surveillance.
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Authors
Angela Peron, Aglaia Vignoli, Francesca La Briola, Emanuela Morenghi, Lucia Tansini, Rosa Maria Alfano, Gaetano Bulfamante, Silvia Terraneo, Filippo Ghelma, Giuseppe Banderali, David H. Viskochil, John C. Carey, Maria Paola Canevini,