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Autor:
Jessica Galli, Erika Loi, Caterina Strobio, Serena Micheletti, Paola Martelli, Lotfi B. Merabet, Nadia Pasini, Francesco Semeraro, Elisa Fazzi
Publikováno v:
Brain and Development. 45:117-125
Angelman syndrome (AS) is a rare neurogenetic disorder caused by altered expression of the maternal copy of the UBE3A gene. Together with motor, cognitive, and speech impairment, ophthalmological findings including strabismus, and ocular fundus hypop