De novo missense variants in phosphatidylinositol kinase PIP5KI. underlie a novel neurodevelopmental syndrome associated with altered phosphoinositide signaling Manuela Morleo , Rossella Venditti , Evangelos Theodorou , Lauren C. Briere , Marion Rosello , Alfonsina Tirozzi , Roberta Tammaro , Nour Al-Badri , Frances A. High , Jiahai Shi , Viviana Cetrangolo , Annalaura Torella , Melissa A. Walker , Romano Tenconi , Maria Iascone , Davide Mei , Renzo Guerrini , Jasper van der Smagt , Hester Kroes , Koen L. I. van Gassen , Muhammad Bilal , Muhammad Umair , Veronica Pingault , Tania Attie-Bitach , Jeanne Amiel , Resham Ejaz , Lance Rodan , Marcella Zollino , Pankaj B. Agrawal , Filippo Del Bene , David A. Sweetser , Brunella Franco , Vincenzo Nigro EUROPEAN JOURNAL OF HUMAN GENETICS（2024）
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