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2023

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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DE NOVO TRUNCATING MUTATIONS IN WASF1 CAUSE INTELLECTUAL DISABILITY WITH SEIZURES

Yoko Ito1, Keren J. Carss2,3, Sofia T. Duarte4, Taila Hartley1, Boris Keren5, Manju A. Kurian6, Isabelle Marey5, Perinne Charles5, Carla Mendonça7, Caroline Nava5,8, Rolph Pfundt9, Alba Sanchis-Juan2,3, Hans van Bokhoven9, Anthony van Essen10, Conny van Ravenswaaij-Arts10, NIHR BioResource Care4 - Rare Canada Consortium, Kym M. Boycott1,11, Kristin D. Kernohan1 Sarah Dyack12 and F. Lucy Raymond 3,13