Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants von Revert Barberà, Anna, Fernández Isern, Guerau, Ortigoza‐Escobar, Juan Darío

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Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report von Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío

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The diagnosis of the first‐documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome von Martorell, Loreto, Yubero, Delia, Capdevila, Esther Cuatrecasas, Fernández Isern, Guerau, Salinas, Diana, Mari Vico, Rosanna, Rebollo, Mónica, Muchart, Jordi, Armstrong, Judith, Ortigoza‐Escobar, Juan Darío

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MULTI-OMICS CHARACTERIZATION OF NEURODEVELOPMENTAL DISORDERS von Illescas, Katia Sofia, Isern, Guerau Fernández, Oyarzábal, Alfonso, García-Cazorla, Àngels

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