P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity
Angela Peron,Rosa Maria Alfano,Barry Moore,Mark Nellist, Brent Pedersen,Francesca La Briola,Luigina Spaccini,Federica Natacci,Maria Paola Recalcati,Valentina Chiesa,Rosangela Arancio,Ugo Cavallari,Chiara Vannicola,Graziella Cefalo,Silvia Maitz,Stefania Bigoni,Lorenzo Gualandri,Cristina Gervasini,Pierangelo Veggiotti,Wilfred van Ijcken,Aglaia Vignoli,Gaetano Pietro Bulfamante,John Carey,Maria Paola Canevini Genetics in Medicine Open（2023）
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tuberous sclerosis,tsc1/tsc2 mosaicism
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