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pro vyhledávání: '"Andrea Hilary Nemeth"'
Autor:
Dora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, Benjamin Kamien, Sony Malhotra, Maya Topf, Marios Kaliakatsos, Jane Valentine, Andrea Hilary Nemeth, Sandeep Jayawant, Kimberley M. Reid, Kshitij Mankad, Sniya Sudhakar, Hilla Ben-Pazi, Katy Barwick, Manju A. Kurian
Publikováno v:
Neurology. 100:e2214-e2223
Background and ObjectivesBirk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants inSLC30A9presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has p