Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders
Autor: | Mastrangelo, Mario, Sartori, Stefano, Simonati, Alessandro, Brinciotti, Mario, Moro, Francesca, Nosadini, Margherita, Pezzini, Francesco, Doccini, Stefano, Santorelli, Filippo Maria, Leuzzi, Vincenzo |
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Zdroj: | In European Journal of Medical Genetics December 2019 62(12) |
Databáze: | ScienceDirect |
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