The Largest Cohort of KBG Patients: Defining the Evolving Phenotype
Lorenzo Loberti,Lucia Bruno,Stefania Granata,Gabriella Doddato,Francesca Fava,Michele Carullo,Elisa Rahikkala,Guillaume Jouret,Leonie Menke,Damien Lederer,Pascal Vrie-Lynck,Lukas Ryba,Nicola Brunetti-Pierri,Amaia Lasa-Aranzasti,Anna Maria Cueto-Gonzalez,Laura Carmen Trujillano Lidon,Irene Valenzuela,Eduardo Tizzano, Alessandro Spinelli,Irene Bruno,Aurora Curro,Franco Stanzial,Francesco Benedicenti,Diego Lopergolo,Filippo Maria Santorelli,Constantia Aristidou, Georgios Tanteles,Isabelle Maystadt,Tinatin Tkemaladze,Tiia Reimand, Helen Lokke,Katrin Ounap,Maria Haanpaa,Andrea Holubova,Veronika Zoubkova,Martin Schwarz,Riina Zordania,Kai Muru,Laura Roht,Annika Tihverainen,Rita Teek,Ulvi Thomson,Margherita Baldassarri,Maria Antonietta Mencarelli,Caterina Lo Rizzo,Mirella Bruttini,Francesca Mari,Francesca Ariani,Alessandra Renieri,Anna Maria Pinto EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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